However, the provision of medical care and medical management is centered around observations and protocols developed in clinical trials on groups or cohorts of patients. This group data is used to derive a standardised method of treatment which is subsequently applied on an individual basis (e. g. the comment that drugs are often prescribed on the basis that everyone is a 70kg white male).

It is standard practice for clinicians to prescribe the same starting dose of a particular drug for a given indication and then adjust the treatment regimen by monitoring the progress of the disease and therapeutic response in individual patients. Observation of actual therapeutic outcome following these adjustments to patient's therapy provides the basis for determining a prognosis for the disease and developing a clinical management plan for patient care (e. g. see Fig 1, algorithm for management of schizophrenia, from Fig 1 Taylor and Kerwin 1997, Fig 2 algorithm for treatment of depression from Fig 1 Pathare and Paton 1997) and treatment algorithms published by the National Cancer Institute).

The standard practice of clinical management has its disadvantages. In particular it is retro-active in that changes to patient management will occur following the emergence of therapeutic failures, adverse events or other difficulties in undertaking the therapeutic regime (Lazarou et al 1998).

There is considerable evidence that a significant factor underlying this individual variability in response to disease, therapy and prognosis lies in a person's genetic make-up. There have been numerous examples relating that polymorphisms within a given gene can alter the functionality of the protein encoded by that gene thus leading to a variable physiological response (see Marshall 1997a and b for reviews).

Gene sequence variations that are present at a frequency of less than 1% in the population are arbitrarily designated as mutations whilst those at a higher frequency are known as polymorphisms (Schafer and Hawkins 1998).

DNA variants leading to monogenic diseases (e. g. presenilin mutations causing Alzheimer's disease, BRCA mutations causing breast cancer) are usually rare in a population due to the process of natural selection. However, variants of genes involved in, or contributing to, polygenic diseases do not act alone to produce the phenotype. As such selection against them occurs only when they are in the appropriate condition to cause the disease, as a result of this differential selection pressure they the individual variants can exist at quite high frequencies within a population.

Alteration of a single gene may not by itself be detrimental, but in combination with certain variants of other genes, may contribute to a disease phenotype (e. g. el-Zein et al, 1997, observed that the inheritance of a particular combination of metabolising genes is strongly associated with lung cancer). The interaction of the relevant variant genes may be enough to cause a disease phenotype or spectrum of phenotypes, but in many cases other kinds of factors will also influence the course of events (e. g. interaction of ApoE genotype and head injury in Alzheimer's disease Nicholl et al 1996).

The identification of modifier genes that influence the penetrance and expressivity of these risk alleles will be key variables in assessing individual risk profiles. It is likely that the combination of and interaction between small discrete genetic influences on a disease state represent the single largest explanation for the phenotypic variation seen in medicine.

This opens the possibility that the identification of the genes associated with disease and an understanding of how these genes interact with the environment, can lead to better prediction of the outcome of both the disease and the therapeutic process. This in turn would allow the tailoring of resources and therapy to meet the likely requirements of the individual patient (Marshall 1997a). The net result should be improved clinical management, identification of the potential for prevention, the reduction of the burden of disability and, ultimately, improved quality of life for the individual (Poste 1998).

As a result of the appreciation of the contribution of genetic variation to medicine, considerable effort has been made to determine how individual genetic variations affect overall health (including predisposition to disease) and once disease is manifest, the likely patterns of progression, responsiveness to treatment and overall prognosis.

In a quest to understand and plot the limits of genetic variation in humans the Human Genome Project was launched in 1990 with a mission to sequence the code of all 100,000 or so human genes by 2002.

As a result of the Human Genome project not only is the mapping and sequencing of the human genome becoming well understood but also the degree of variability in gene sequence between individuals is being documented (Lander 1996). The average difference between individuals appears to be around 0.3% which equates roughly to a difference in one base pair every 500-1000 base pairs of sequence. The variations are known as polymorphisms and such polymorphic variation is thought underlie much of the clinical variability observed in patients with disease and in their response to therapy.

The resultant explosion of genetic sequence information has lead to the emerging sciences of genomics and proteomics. Within the disciplines technologies have evolved (e. g. polymerase chain reaction, single strand conformational polymorphism etc) which allow us to read individual sequence data and detect and identify polymorphic variation in individuals, in disease states and in different ethnic groups (Griffin et al 1997, Little et al 1997).

As a result of such studies individual genes have been identified which indicate a predisposition to disease or a susceptibility to adverse drug responses (e. g. presenilin gene mutations and development of Alzheimer's disease, BRCA gene mutation and development of breast cancer, ACE polymorphisms and early onset heart disease, cytochrome P450 polymorphisms and drug metabolism).

However, such studies have been completed as academic exercises in scientific discovery and involve individual genes and large groups of patients.

Usually a particular individual response to disease or therapy is likely to result from a complex interaction between multiple genes, discrete environmental factors and the particular therapeutic approach offered (for example see algorithms in Figs. 1 and 2).

As a result, despite the many publications concerning the theoretical or potential applications of genomics to medicine (e. g. Marshall 1997a and b, Poste 1998, Crooke 1998), progress in implementing these approaches on a practical level has been exceedingly slow. In particular, little progress has been made in the understanding of or the ability to prognose individual response to particular disease states or therapeutic regimes (Poste 1998).

In part this has been related to the types of technology available for such studies (Marshall and Hodgson 1998). Such techniques as MALDI-TOF (Griffin et al 1997), sequencing (Dramanac et al 1998) and molecular beacons (Tyagi et al 1998) are complex and relatively slow and require the availability of specialised laboratories and highly trained personnel.

In recent reviews of the field it has been stated that: *'within next 10 years when not only all genes (will have been) identified but all common intragenic variation also' (Lander 1996). the'assembly of comprehensive clinical databanks and their use for large-scale genetic association studies to define robust disease-gene risk correlations' constitutes a significant technological challenge (Poste 1998).

*'if all human DNA variants were known this set would include all functional polymorphisms and if they could be analysed in all individuals comparison of phenotypes and correlation with genotype might make possible the assignment of function to every gene that predisposes to disease of any kind, and also to non- clinical phenotypes including behavioural traits. The sheer task of this is overwhelming and may never be practical' (Shafer and Hawkins 1998).

On the basis of the current state of the art it seems clear that translating the colossal investment in the human genome project into a means of revolutionising healthcare management requires both substantial creativity in the harnessing of technologies and considerable technical invention before its promise of can be realised.

For the realisation of the promised revolution in medicine two key factors require consideration; * The human genome is made up of some 100,000 separate genes.

Not all genes are of equal biological importance as regards the physiological functioning of humans.

The first issue, that of reading and tracking the volume of information encapsulated in the human genome by the sequence of 100,000 genes and their mutations and polymorphic variations, is beginning to be addressed by emergent technologies such as DNAchips, MALDI-TOF MS (Marshall and Hodgson 1998 see Table 1) and PEDIAT-type technologies (Fox 1998).

Table 1. The main features of some hybridization array formats currently available (Marshall & Hodgson 1998) Company Arraying method Hybridization step Readout Main focus Affymetrix On-chip 10,000-260,000 oligo Fluorescence Expression profiling, (Santa Clara, CA) photolithographic features probed with polymorphism analysis, and synthesis of-20-25-mer labelled 30-40 diagnosis oligos onto silicon nucleotide fragments wafers, which are diced of sample cDNA or in 1.24 cm2 or 5.25 cm2 antisense RNA chips Brax Short synthetic oligo, 1,000 oligos on a Mass Diagnostics, expression (Cambridge, UK) synthesized off chip"universal chip"spectrometry profiling, novel gene probed with tagged identification nucleic acids Hyseq 500-2000 nt DNA 64 sample cDNA Radioisotope Expression profiling, novel (Sunnyvale, CA) samples printed onto spots probed with gene identification, and large- 0.6 cm2 (HvGnostics) 8,000 7-mer oligos scale sequencing (Gene or ~18 cm2 (Gene (HyGnostics) or Discovery array), Discovery) membranes 000 sample polymorphism analysis and cDNA spots probed diagnostics (HyGnostics/ with 300 7-mer oligos HyChip arrays), and large- (Gene Discovery) sample sequencing (HyChip array) Prefabricated 5-mer Universal 1024 oligo Fluorescence oligos printed as 1.15 spots probed 10 kb cm2 arrays onto glass sample cDNAs, (HyChip) labelled 5-mer oligos and ligase Incyte Piezoelectric printing (eventuaily 10,000) Fluorescence and Expression profiling Pharmaceuticals for spotting PCR oligo/PCR fragment Radioisotope Polymorphism analysis, (Palo Alto, CA) fragments and on-chip spots probed with Diagnostics synthesis of oligos labelled RNA Molecular 500-5000 nt cDNAs-10, 000 cDNA spots Fluorescence Expression profiling and Dynamics printed by pen onto-10 probed with 200-400 novel gene identification (Sunnyvale, CA) cm2 on glass slide nt labelled sample cDNAs Nanogen Prefabricated-20 mer 25,64,100,400 (and Fluorescence Diagnostics and short tandem (San Diego, CA) oligos, captured onto eventually 10,000) repeat identification electroactive spots on oligo spots polarized silicon wafer, which are to enhance diced. Into < I cm2 hybridization to 200- chips 400 nt labelled sample cDNAs Protogene On-chip synthesis of <8,000 oligo spots Fluorescence Expression profiling, and Laboratories 40-50-mer oligos onto 9 probed with 200-400 polymorphism analysis (Palo Alto, CA) cm2 glass chip via nt labelled sample printing to a surface-nucleic acids tension array Sequenom Off-set printing of 250 locations per Mass Novel gene identification, (Hamburg, array, around 20-25-SpectroChip spectrometry candidate gene validation, Germany and San mer interrogated by laser diagnostics, and mapping Diego, CA) desorbtion and mass spectrometry Synteni 500-5000 nt cDNAs <10, 000 cDNA spots Fluorescence Expression profiling and (Fremont, CA) printed by tip onto-4 probed with 200-400 novel gene identification nt labelled sample cm2 glass chip cDNAs The German Prototypic DNA Around 1000 spots on Fluorescence/Expression profiling and Cancer Institute macrochip with on-chip a 8x12 cm chip mass spectrometry diagnostics (Heidelberg, synthesis of probes Germany) using f-moc or t-boc chemistry These new technologies mark a significant advance in the potential application of genomic information to the problems of biology and human health. The reason for this is their capability of determining or confirming a large volume of DNA sequence data very quickly at the individual level. In this way they open the door to the application of genomic information to the individual patient.

These technologies are also evolving quickly according to Moore's Law (which posits that computer chips'power doubles every 18 months). For instance, three years ago the genechips made by leading companies held some 20,000 DNA probes. Currently genechips with 65,000 probes are available, and a chip with 400,000 probes has recently been produced (Marshall and Hodgson 1998). Applications for such technologies have included sequencing, diagnostics (mutation detection in the BRCA1 gene for cancer), gene discovery, gene expression profiling and gene mapping (Marshall and Hodgson 1998).

However despite their value as research and diagnostic tools, the genechips in existence are utilized largely as research tools (Marshall and Hodgson 1998). They have not been used as a tool for the express purpose of improving healthcare management by enabling the process of clinical prognosis and facilitating the generation of health risk profiles.

The reason for this is the failure to conceive of or invent an appropriate design which identifies the critical core of genes which are the most important in terms of human function. The genetic variability in this group of genes is the most important contributor to the variation in clinical and physiological phenotypes. Not all genes are equally important in the normal physiological functioning of the human body nor in the induction, development or progression of diseases or physiological states. In a given disease, as few as 5-10 genes in different configurations may be of seminal importance in determining the vast bulk of inter-individual variability to disease and therapeutic approaches (Drews 1997, Goodman and Gillman 1996).

As such, a device capable of delivering information on 10,000 genes may leave its user in grave danger of information overload and render him/her unable to identify and abstract the critical information required to enhance patient management or healthcare.

As a result, the translation of such technologies in genechip devices from research tools into healthcare management tools is severely limited (Marshall and Hodgson 1998, Poste 1998, Schafer and Hawkins 1997).

In an effort to overcome this difficulty a consortium of academic and industrial groups (SNP Consortium) has been formed to try and identify the important disease related variants of human genes. The technologies to be used are the generation and assembly of a SNP map spanning the whole human genome and its application to linkage studies.

However, this approach is still in its infancy and is widely held to face considerable technical hurdles in the robust statistical analysis of huge datasets.

In order to bring about the integration of genomics into medical practice and enable design and building of a technology platform which will enable the everyday practice of molecular medicine a way must be invented for the DNA sequence data to be aligned with the identification of genes central to the induction, development, progression and outcome of disease or physiological states of interest: Practitioners of molecular healthcare need to be able to; * Identify the presence or absence of a selected group of genes and polymorphic variants central to the induction, development progression and outcome of disease or physiological states * Focus on polymorphisms that lie within the coding or regulatory regions of the gene and are likely to result in altered structure or expression of the protein.

Utilise the data on the core group of genes in order to generate guidelines and guidance for the healthcare management of patients or persons.

The invention described herein identifies the core group of genes required for the design development and manufacture of such a valuable aid to clinical management of the patient and general healthcare management.

According to the invention, the number of genes and their configurations (mutations and polymorphisms) needed to be identified in order to provide critical clinical information concerning individual prognosis is considerably less than the 100,000 thought to comprise the human genome.

The identification of the identity of the core group of genes enables the invention of a design for genetic profiling technologies which comprises of the identification of the core group of genes and their sequence variants required to provide a broad base of clinical prognostic information-'genostics'.

By careful and lengthy research of the literature, tabulation of data, cross referencing of studies and conduction of a variety of experiments we have identified the core group of genes, which, if assessed for the presence of their functional variants, will enable an enhanced prognosis for an individual patient and form the basis for converting genetic profiling technologies from research tools into universal tools for health management.

Identification of the core group of genes and their functional variants also allows for said technologies to be utilised in generating individual health-risk profiles and profiling the health-risks of the population at large. The determination and identification of sequence data required to identify the important functional variants is readily accomplished by those skilled in the practice of the relevant arts.

The invention does not provide a method for treatment as such. Nor does it provide a direct method of diagnosis of illness or health risk as such. Information obtainable using the invention can be used by a medical practitioner to tailor resources and therapy to meet the likely requirements of individual patients and selected populations of patients. For example in a complex regime or clinical management plan (as seen for example in Fig. 1 and 2) the invention allows the better prediction of the outcome of both the disease and the chosen therapeutic process.

The enablement of the invention and the generation of the information required for the design of'genostics'requires: 1. Identification of sequence data (Example 1).

2. Assessment of the type and significance of sequence variation in the core group of genes (Examples 2,3,4).

3. Identification of likely genetic variation/disease relationships (Example 5 and 5a).

4. Means of identifying and detecting additional polymorphisms in the core group of genes (Example 6).

5. A practical approach to data analysis to generate information on prognosis (Example 7).

6. An illustration of how clinical management of a patient can be enhanced by utilising genetic profiling approaches (Example 8 and 9).

EXAMPLE 1 Gene sequence data is readily available in the public domain.

For the design of the GENOSTIC genechip device, gene sequence data can be retrieved, by persons skilled in the art, by searching the following public databases: Website Address Description DbEST http://www. ncbi. nlm. nih. gov/dbES Database of expressed T sequence tags EBI/EMBL http ://www. ebi. ac. uk/mutations/ Mutations EBI: The European http://www. ebi. ac. uk/ebi home. html Nucleotide Sequence Database Bioinformatics Institute, Hinxton, UK EMBL http://www. ebi. ac. uk/queries/querie Nucleotide Sequence Database s. html GDB: The Genome http://www. gdb. org/gdb/gdbtop. htm Human Genome Database Database, Infobiogen 1 European Node, FRANCE GeneCards http://bioinformatics. weizmann. ac. il GeneCards is a database of /cards/index. html human genes, their products and their involvement in diseases. GeneClinics http://www. geneclinics. org/ GeneClinics (formerly Genline) is a knowledge base of expert-authored, up-to-date information relating genetic testing to the diagnosis, management, and counseling of individuals and families with inherited disorders. Genethon http://wwv. genethon. frigenethon e The Human Genome Research n.html Centre. GSDB: Genome http ://wvw. ncgr. org/ I A collection of DNA sequence Sequence database I data and related information. HGP: Human Genome l http ://wnvnv. ornl. gov/TechResources Useful background & links. I Project Information/Human Genome/home. html Human Gene Mutation http ://wvw. uwcm. ac. uk/uwcm/mg/s Mutations Database earch NCBI http ://www.ncbi, nlm. nih. gov/ KEY SITE. Nucleotide Sequence retrieval start point. OMIM: Online http://www. ncbi. nlm. nih. gov/Omim This database is a catalog of Mendelian Inheritance in/human genes and genetic Man disorders. PubMed http://www. ncbi. nlm. nih. gov/PubM PubMed accesses MEDLINE ed/medica literature database and links to full-text journals. It is also the literature component of the Entrez retrieval system for molecular biology information. Research Tools (Science http://www. ncbi. nlm. nih. gov/SCIE A Gene Map of the Human -NCBI) NCE96/ResTools. html Genome. RHdb: Radiation Hybrid http://wwv. ebi. ac. uk/RHdb Radiation Hybrid Database. Database, Hinxton, UK I Stanford Human http://www. shgc. stanford. edu/ Sequence database. Genome Centre HUGO: The Human http://www. gene. ucl. ac. uk/hugo HUGO is the international Genome Organisation organisation of scientists involved in the Human Genome Project. TIGR: The Institute for http://www. tigr. org/ Genomic databases. Genomic Research The National Human http ://www.nhgri. nih. gov/ Access to sequence databases Genome Research Institute The Whitehead Institute http://www. genome. wi. mit. edu/ Genome map and sequence Center for Genome information. Research Unigene: Unique Human http://www. ncbi. nlm. nih. gov/UniGe UniGene is a system for Gene Sequence ne/index. html automatically partitioning Collection. (NCBI) GenBank sequences into a non-redundant set of gene- oriented clusters. Each UniGene cluster contains sequences that represent a unique gene, as well as related information such as the tissue types in which the gene has been expressed and map location. University of Oklahoma http ://dnal. chem. ou. eduiindex. html Genomic databases WEHI, Melbourne, Aus I http://wehih. wehi. edu. au/srs/srsc/ Sequence Retrieval System Genes coding for proteins known to play a key role in organ function or disease are designated'candidate genostic genes'. Variations within the gene structure may alter the regulatory or structural integrity of the gene product leading to enhancement or reduction in the specific function (e. g. receptor binding, enzyme activity). The exact role that a candidate gene plays in disease, prognosis and healthcare management can be fully ascertained by assessing the effects of variation in gene structure in particular patient groups, populations or individuals (see examples 2,3 and 4).

EXAMPLE 2-Candidate Genostic Genes Human Neuronal Nitric Oxide Synthetase Gene Map Locus: 12q24.2q24.31 (0MIM Ref. 163731).

One candidate'genostic'gene is the gene encoding nitric oxide synthetase (NOS-1).

The enzymes responsible for NO synthesis in man constitute a family with at least three distinct isoforms: inducible, endothelial, and neuronal. Neuronal NO synthetase (NOS-1) is localised to human chromosome 12, and participates in diverse biologic processes including neurotransmission, the regulation of body fluid homeostasis, neuroendocrine physiology, control of smooth muscle motility, sexual function and monocyte biology.

Burnett et al. (1992) localized NO synthase to rat penile neurons innervating the corpora cavernosa and to neuronal plexuses in the adventitial layer of penile arteries.

They demonstrated that small doses of NO synthase inhibitors abolished electrophysiologically induced penile erections establishing that nitric oxide is a physiologic mediator of erectile function.

Kharazia et al. (1994) found that all neurons in the striatum and many in the cortex were positive for nitric oxide synthase indicating a role of NOS in brain function.

NOS 1 cDNA clones contain different 5-prime terminal exons spliced to a common exon 2. Xie et al. (1995) demonstrated that the unique exons are positioned within 300 bp of each other but separated from exon 2 by an intron that is at least 20 kb long. A CpG island engulfs the downstream 5-prime terminal exon. In contrast, most of the upstream exon resides outside of this CpG island. The upstream exon includes a GT dinucleotide repeat. The expression of these 2 exons is subject to transcriptional control by separate promoters. Nitric oxide is synthesized in skeletal muscle by neuronal-type NO synthase, which is localized to sarcolemma of fast- twitch fibers. Synthesis of NO in active muscle opposes contractile force. Brenman et al. (1995) showed that NOS1 partitions with skeletal muscle membranes owing to association of enzyme with dystrophin, the protein mutated in Duchenne muscular dystrophy. The dystrophin complex interacts with an N-terminal domain of NOS1 that contains a GLGF motif. Both humans with DMD and mdx mice show a selective loss of NOS 1 protein and catalytic activity from muscle membranes. NOS 1-deficient mice are resistant to neural stroke damage following middle cerebral artery ligation. Nelson et al. (1995) reported a large increase in aggressive behavior and excess, inappropriate sexual behavior in NOS1'knockout'mice. Initial observations indicated that male (but not female) NOS1-deficient mice engaged in chronic aggressive behavior.

Magee et al. (1996) used PCR to clone a novel form of neuronal NOS from rat penile RNA. This NOS cDNA was termed PnNOS for'penile neuronal NOS.'Sequencing revealed that the PnNOS cDNA was identical to rat cerebellar neuronal NOS 1 except for a 102-bp insertion in PnNOS. Repetition of RT-PCR showed PnNOS to be the only form of NOS1 expressed in rat penis, urethra, prostate, and skeletal muscle.

PnNOS may be responsible for the synthesis of nitric oxide during penile erection and may be involved in control of the tone of the urethra, prostate, and bladder.

Using the available genomic sequence of neuronal NOS-1 it is possible to identifiy those parts of the gene which show variation sufficient to alter the normal functioning of the gene.

1.) Transcriptional Promoter Sequences: Sequence mutations in the promoter region of the NOS1 gene will allow the identification of individuals with altered transcriptional regulation control.

2.) RNA Processing (Splicing) Sequences: Characterise mutations in the intron/exon structure of the NOS 1 gene to identify individuals with altered RNA splicing patterns. These results in truncated proteins or splice variants with an altered function.

3.) Messenger RNA Translation and Stability Sequences: Sequence and characterise mutations within the repetitive sequences located in the 3' untranslated region of the NOS-1 gene. These individuals have altered translational control of their mRNA.

4.) DNA Sequences Involved in Genomic Rearrangement or Expansion: The presence of Alu-1 repeat, which are known to cause recombination, allows one to detect gross chromosomal rearrangements. Changes in either the sequence or the genomic structure may well correlate with clinical or pathological symptoms.

102-bp insertion will also be involved in the functional variation of activity involving the urogenital tract.

5.) Coding Sequences: Mutations and polymorphisms in the coding (exon) sequences of the NOS-1 gene will result in changes at the structural level of the protein with functional changes. Amino acid substitutions, within neuronal NOS-1, will play a role in age/brain related neuronal defects.

The specific sequences are detailed in Table 2.

TABLE 2: Summarv of Genome Elements within the Neuronal Nitric Oxide Svnthetase Gene. Gene Anatomy Key Region Functional Elements 1.5'Flanking Region: GC-enriched sequences: DNA methyltransferase foot print region CpG Island Promoter elements TATA box Inverted CAAT boxes AP-2-like element CREB/ATF element c-Fos element NF-kB-like ETS-binding sites TEF-1/MCBF binding sites NRF-1 binding sites RNA Pol III site 2. Exon Coding Regions Translation initiation exon 2 Translation termination exon 29 3. RNA Processing Intron/exon boundaries (1-29) Cassette splicing exons 9-11 4. RNA Translation 3'Untranslated Region 5. Insertion 102bp insertion 6. Repetitive Sequences Alu-1 family Dinucleotide repeats These variations in the genomic structure of the human NOS 1 gene are important in controlling the physiological role of NOS in normal or disease states in humans.

Alterations in the physiology of NOS have significant healthcare indications (i. e stroke, cardiac and circulatory disease, urogenital disease and dysfunction, psychiatric symptoms and musculoskeletal disorders).

In consideration with an assessment of the functional variation in other genes, identification of the pattern of NOS 1 gene variation in a patient cohort, population or individual offers a powerful practical tool for improving the management of healthcare and the prognosis of health risk.

EXAMPLE 3 Voltage-gated calcium channels Gene map locus (OMIN Ref. 601011) Other candidate'genostic'genes are the calcium channel subunit genes.

There are six functional subclasses of calcium channel. Voltage-dependent Ca (2+) channels not only mediate the entry of Ca (2+) ions into excitable cells but are also involved in a variety of Ca (2+)-dependant processes, including muscle contraction, hormone or neurotransmitter release and gene expression.

Calcium Channels are multi-subunit complexes and the channel activity is directed by a pore-forming alpha-1 sub-unit. The auxillary sub-units beta, alpha-2/delta, and gamma regulate channel activity. Ca (2+) currents have been described on the basis of their biophysical and pharmacological properties and include L-, N-, T-, P-, Q-, and R-types.

P/Q type channels colocalise with a subset of docked vesicles at the synapse where they control exocytosis, demonstrated by the sensitivity of various types of neurotransmission to specific blockers of these channels. P/Q type channels are involved in CSD (cortical spreading depression-which causes the aura or visual symptoms of migraine) and release of neurotransmitters, including 5-HT (migraine patients have systemic disturbance of 5-HT metabolism).

The distinctive properties of each of the Ca (2+) channel types are primarily related to <BR> <BR> the expression of a variety of alpha-1 isoforms (Dunlap et al., 1995). There are at least 6 classes of alpha-1 subunits: alpha-lA, B, C, D, E and S. They are derived from 6 genes representing members of a gene family. The alpha-lA, B and E isoforms are abundantly expressed in the neuronal tissue. The genes encoding the alpha-lA, B, and E isoforms are symbolised CACNL1A4, CACNLlA5, and CACNL1A6 respectively. <BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> <P>The CACNL1A4 gene was assigne to 19pu3, (Diriong et al., 1995). The gene was<BR> <BR> <BR> <BR> <BR> <BR> <BR> characterised by Ophoff et al. (1996) in preparation for a mutation search in neurological disorders that map to 19pl3. They found that the gene covers 300 kb with 47 exons and reported the amino acid sequence for residues 1-2262. Sequencing of all the exons and their surroundings revealed polymorphic variations, including a (CA) n-repeat, a (CAG) n-repeat in the 3-prime-UTR, and different types of deleterious mutations in 2 neurological disorders; familial hemiplegic migraine and episodic ataxia type 2. Thus, these 2 neurological disorders are allelic channelopathies.

Calcium channels are also known to be important in regulating the function of the heart (particularly arrhythmias) and a number of drugs express their therapeutic effects by blocking myocardial Ca (2+) or prolonging the activation time of the channel (Brody, Lamer and Minneman 1998). Polymorphic variation can help predict individual response to injury and disease, the symptoms and consequences of cardiovascular disease, dysfunction and damage to the system.

EXAMPLE 4 Lipoprotein lipase LPL Gene map locus (OMIN Ref. 238600) A third example of a candidate for a'genostic'gene is the enzyme lipoprotein lipase (LPL).

Human lipoprotein lipase is a member of a lipase gene family, which also includes the hepatic and pancreatic lipases. LPL is located on the surface of endothelial cells of capillaries where it hydrolyses triacylglycerols of plasma lipoproteins to fatty acids and glycerol. These fatty acids are then taken up by cell and used for energy production. The enzyme plays a central role in lipid metabolism and is a candidate susceptibility gene for cardiovascular disease.

The LPL gene contains ten exons spanning 30kb and encodes a protein of 475 amino acids and has several well characterised functional domains including the APOC-II binding site, the heparin-binding clusters used to localise LPL to the endothelial wall and the domains that contribute to the active site.

Diseases that affect the metabolism and transport of lipids frequently result in abnormally high plasma triacyglycerols and or cholesterol that are often associated with coronary artery disease, artherosclerosis and/or obesity. DNA sequence variation in genes that encode many of the enzymes and proteins involved in lipid metabolism and transport (including LPL) have been identified and associated with clinically abnormal lipid profiles.

The LPL gene sequence has been shown to contain distinct sequence variations <BR> <BR> among populations, (Nickerson et a/, 1998). Nickerson et al described 88 variants in a region of the LPL gene, 90% of which were single nucleotide polymorphisms (SNPs), the remaining being insertion-deletion variations. 81 variants were found in intronic regions, and 7 in the exonic sequence. Only 4 of the exonic variants altered the protein sequence.

Assessing the functional variability of the LPL gene in conjunction with the functional variabilty of other core genes will provide a tool in predicting the likelihood of developing a range of diseases including the symptoms and consequences of coronary artery disease, artherosclerosis and/or obesity.

As shown above, sequence data for genes of interest can be readily obtained. Genetic variation in specific regions of genes can also be determined. The identification of a core group of genes which have important effects on the key physiological and pathophysiological processes in human disease would form an important medical advance.

A device or detector configured and designed using this core group of genes (GENOSTIC) would have a general utility in the practice of medicine and healthcare management for: prognosing the course of illness predicting likely therapeutic response 'identifying potential adverse event profile.

EXAMPLE 5 LIST OF GENES WITH KNOWN ASSOCIATION WITH DISEASE The following are examples of genes with known associations with disease which can be discerned by a careful review of the medical and biochemical literature and by experimentation. Many such genes can also be identifed by a review of publicly available databases e. g. Human Gene Mutation Database (http://www/uwcm. ac. uk/uwcm/mg/search/), OMIM Database (http://www. ncbi. nlm. nih. gov/omim) or GENECARDS (http://bioinformatics. weizmann. ac. il/cards/index. html).

Note: The tabulated genes are listed in alphabetical groups, but the numbering of genes within each group is not necessarily continuous. CDAB 1: APOA4 1: BLM 1: CRYAA 1 : DPYD 2: AAC2 2: BCKDHA 2 : CRYBB2 2: DIAPH1 3: AD2 3 : BTD 3 : CHM 3: DMD 4: AGA 4: BPGM 4 : C2 4: DPYS 5:BRCA25:C55:DFN15: 6: ALAS2 6: BRCA1 6: C9 6 : DCP 7: ALB 7 : BCP 7: C3 7: DLD 8:BLMH8:C78:DFNA58: BCKDHB 9: CTNS 9: DTD 10: APOH 10: BCHE 10: CIQA 10 : DCX 11: AMELX 12: BTK 11: C1QB 11: DYT1 12: APT1LG1 13 : BARD1 12: CNGA3 12: DMPK 13: A2M 18: BSEP 13: C1QG 13: DRD4 14: APPB1 14: CPO 14 : DDB2 15: AGXT 15 : CDH 1 15: DIAPH2 16: AGTR1 16 : C4A 16: dgcr5 17: ALDH2 17: C4B 17 : DRD2 18: AGR1 18: C6 18 : DES 19: ALD : DBT 20: AGT 20 : CAC 20 21: ACHE 21 : chit 24: DYSF 22: CLCN127:22: DRA 23:23:ADRB3 23: DLX329: 24: atpsk2 24: COL10A1 31: DRPLA 25: ATM 25 : CYPIAI 38: DIA1 26: ASPA 26: CLCNKB 39: DHAPAT 27:27:ACTC 27: CD3G 28: ADRB2 28: CACNA1F 29:CPS129: 30:AZFI 30 : CRX 31:31:AT3 31: CYBA 32:ABO 33: ABCR 33: CST3 34: AACT 34: CNGA1 36: ANKI 35: CETP 37: ALAD 36: CAT 38:CTSK37: 39:APP 40: APOC3 40: CSX E F G H 1: EPOR 1: FUCA1 1: GM2A 2 : HD 2: EPB41 2 : FRDA 2 : GYPC 3: HK1 3 : EMX2 3 : FGB 3 : GALT 5: HBG2 4: FH4:GLB16:HSD3B24: 5: FGG5:GALE7:HBG15: 6: ED1 6: FMR2 6: GAMT 9 : HFE 7: ESR 7 : FGFRI 7 : GYPA 10: HTN3 8: PGA8:GPI11:HOXA138: 9: EPHX1 9: F10 9: GPC3 12 : HR 10: EPX-PEN 10: FUT6 10: GLI3 13 : HBA1 11: EDNRB 11: FKHL15 11 : GCDH 14: HMGCL 12: EPM2A 12: FRAXF 12: GAA 15: HBD 13: FBP113:G6PC16:HTR2C13: 14: F1114:GBA18:HP14: 15: ETFB 15: F12 15: GALK1 19 : HSD11B2 16: ENG 16: FCGRlA 16: GBE1 20: HK2 17: EPB42 17 : FBN2 17: GLS 21: HPS 18: ETFDH 18: FAH 18: G6PT1 23 : HGD 19: FSHR19:GLUD125:HBA219: 20: ERCC5 20: F13B 20: GRL 26 : HCF2 22: ERCC4 21: FMO3 21 : GSS 27: HRG 23: ELN 22 : FUT3 22: GK 28: HOXD13 24: EYA1 23 : F13A1 23 : GP1BB 29: HEXB 25: ERCC6 24 : FANCA 24: GSN 32: HLCS ! 26: ERCC3 25 : F7 25: GCGR 33: HPRT1 27: EGR2 26 : FTL 26: GLRA1 34: HBB 28: F527:CH135:HTR1A27: 28: FUT2 28: GAP 36: HSD17B1 29 : FMR1 29: GYS2 37: HSD17B3 30: FCMD 30: GHRHR 40: HSD17B4 31:GH231:FGDY 32: FANCC 32: GCP 33 : FCGR2A 33: GALC 34: FGFR3 34: GP9 35: FECH 35: GNRHR 36: FSHB 36 : GIPR 37: F8C j7 : GSTT1 38:GLA38:FBN1 39: FABP2 39 : GRPR 40: F9 40 : GPD2 KLIJ 1: JAG11:KRT91:LPL1: 2: IVD 2: JAK3 2: KCNQ3 2 : LIPC 4: KRT13:LOR3: 5: KNG4:LDLR4: 6: KRT165:LYZ5: 7: IGHG2 6: KRT18 6: LIG1 9: KRT6A7:LDHA7: 10: KRT6B8:LDHB8: 11: KRT39:LQT29: 12: ITGA7 10: KHK 10 : LEPR 13: ITGA2B 11: KRTHB1 11 : LHCGR 14: IGKV 12 : KEL 12: LEP 15: IPF 1 13: LHB 16: IPF1 14: KAL1 14 : LIPA 17: KRT415:LAMA315: 18: IGHNI 16: KRT13 16: L 1 CAM 19: IGHM 17: KRT2A 17 : LAMC2 20: ITGA6 18: KRT12 19 : LCAT 21: IRS1 19: KRT5 20 : LAMA2_____ 22: ICAM1 20: KRT14 21 : LMXIB 23: ITGB3 21: KRT10 22 : LTBP2 24: ITGB4 22: KRT17 23 : LMAN1 25: ITGB2 23 LAMB3 28: ITGB2 24 : KCNQl 26: KCNJ1 28: KCNJ 11 30:KCNA1 32: KIT 36:KCNE1 m N 0 p 1:NME11:OA11:PROP11: 2: MUT 2: NF1 2: OCA2 2 : PLP 3:NBS13:OCRL3:PRPS13: 4: MLH1 4: NPHP1 4: OXCT 4 : PEPD 5: MMP3 5: NF2 5: OPHN1 5 : PCCB 6: MVK 6: NCF1 6: OTC 6 : PCCA 7: MANBA 7: NDP 7: OAT 7 : PCSK1 8:NCF28:COL1A28:PAH8:MTRR 9:NP9:POU1F19: 10: MPO 10 : NEU 10: PPOX 11:NTF311:PRKCG11: 12:NOTCH312:PXMP112: 13:NRTN13:PPGB13: 14:CHRNA414:PRB314: 15:NPC115:PRB115:MADH4 16:MEFV 16 : NAGA 16 : PRB4 17:MAT I A 17 : NEFH 17 : PMP2 ? 18:NTRK118:PABP218: 19:MOCS 1 19 : NAIP 19 : PEX7 20:mocslb 20 : NDUFS4 20 : PDDR 21:MLR 21 : NOS3 21 : PAFAH2 22:NODAL22:PARK223: 23: MSX2 25: NAGLU 23: PLG 25:MPI 26: MC4R 25: PON2 28: MDCR 26: PROC 29: MBL 27: PROS1 30:MJD 31: MC2R 29: PXMP3 32:PPP1R330: 33 : MC1R 31: PONI 34:PEX132: 35:MAPT') 36:MPZ 34 : PENK 37: MIDI 35: PXR1 38:PGK136: 39:MGAT2 37 : PTH 40: MTHFR 38 : PDE6B 39:PSEN2 40:PKD2 R S 1: QDPR 1: RHO 1: SSA1 1 : TAT 2 : RP2 2 : SODI 2: THBD 3:COL2A13:TNNT23:RLBP1 4:SDH24:TF4:RHD 5: RB1 5: SGSH 5: TBG 6:CLC5A56:TSC16:ROM1 7:SLC12A37:TCN27:RP3 8:SDH18:TPI18:RHCE 9:SUOX9:TPM19:RHAG 10: RHOK 10: STS 10: TBXA2R 12: rfxank 11: ssadh 1 l: TPMT 12:SALL112:TYR13:REN 14: SHOX13:TGM113: 15: RS1 14: SLC12A1 14 : TTR 16:SLC2A215:TSC215: 17: RFC2 16:TGSNRPN 17:SPTB17:TTPA18:RCP 21 : RFXAP 18: SCA2 18: TCOF1 22: RAG219: TULP119: 20:STK1120:TNF23:RPS6KA3 24: SPTA121:THPO21: 25: SH2D1A22:TCF223: 26: RAG1 24: SCNN1B 23 : TPO 25: SI 24: TEK ! 25:TPM326:SCA1 27: TYRP126: 27:TGFBI28:SELE 28:TSHB31:SAA1 32 : SNCA 29: TNNI3 33: SOD3 30 : TIMP3 34 : SCN1B 31: TECTA 35 : SLC6A4 32 36: SRK 33: TCF14 36:TH37:SLC5A1 37:TSHR39:SLC10A2 38: THRB 39: TAP2 40:TGFBR2 WXUV 1: UMPS 1: VWF 1: WT1 1 : XPA 2: UGB 2 : VDR 2: WFS1 2: XDH 3: USH2A 3: VMD2 3: WRN 3 : XPC 4: UFD 1 L 4 : VHL 4: WAS 6 : XK 5: ugt I d 8 : XIST 6: UROD 9: XRCC9 7: UBE3A 8: UCP3 9: UROS 10: UGT1 Y Z 1: ZIC2 2:ZIC3 EXAMPLE 5a POLYMORPHIC VARIATION For each gene, sequence data concerning the existence of polymorphic variation can be located. For example, below are the details of the polymorphic variations of six genes, representative of major gene product/protein categories on the core list.

Category 1-Enzymes a-glucosidase Mutation type Total number of mutations Nucleotide substitutions (missense i nonsense) 20 Nucleotide substitutions (splicing) 4 Nucleotide substitutions (regulatory) 0 Smalldeletions 7 Smallinsertions 0 Smallindels 0 Gross deletions 1 Gross insertions & duplications 0 Complex rearrangements (including inversions) 1 Repeat variations 0 TOTAL 33 Accession Codon Nucleotide Amino acid Phenotype<BR> <BR> Number CM970540 40 cCGA-TGA Arg-Term Glycogen storage disease 2 CM950491 299 CTG-CGG Leu-Arg Glycogen storage disease 2 CM980577 309 cGGG-AGG Gly-Arg Glycogenstorage disease 2 CM910167 318 ATG-ACG Met-Thr Glycogen storage disease 2 CM900102 402 aTGG-CGG Trp-Arg Glycogen storage disease 2 CM940798 519 cATG-GTG Met-Val Glycogen storage disease 2 CM910168 521 cGAG-AAG Glu-Lys Glycogen storage disease 2 CM940799 545 CCT-CTT Pro-Leu Glycogen storage disease 2 CM980578 566 cTCC-CCC Ser-Pro Glycogen storage disease 2 CM930287 643 cGGG-AGG Gly-Arg Glycogen storage disease 2 CM940800 645 GACg-GAA Asp-Glu Glycogen storage disease 2 CM980579 645 cGAC-AAC Asp-Asn Glycogen storage disease 2 CM950492 645 cGAC-CAC Asp-His Glycogen storage disease 2 CM940801 647 TGCg-TGG Cys-Trp Glycogen storage disease 2 CM980580 648 cGGC-AGC Gly-Ser Glycogen storage disease 2 CM980581 672 CGG-CAG Arg-Gln Glycogen storage disease 2 CM980582 672 gCGG-TGG Arg-Trp Glycogen storage disease 2 CM930288 725 cCGG-TGG Arg-Trp Glycogen storage disease 2 CM980583 768 CCC-CGC Pro-Arg Glycogen storage disease 2 CM930289 854 cCGA-TGA Arg-Term Glycogen storage disease 2 <BR> <BR> <BR> <BR> <BR> Accession Donor/ Relative<BR> <BR> IVS Substitution Phenotype<BR> Number Acceptor location CS941486 1 as-13 T-G Glycogen storage disease 2 CS971665 6 as-22 T-G Glycogen storage disease 2 CS941487 10 ds +1 G-C Glycogen storage disease 2 CS971666 16 ds +2 T-C Glycogen storage disease 2 Accession Location/ Delation Phenotype<BR> Number codon CD981927 126 GCAGCCC^TGGtgCTTCTTCCCA Glycogen storage disease 2 CD972136 160 CACCTTC^TTCccCAAGGACATC Glycogen storage disease 2 CD941678 174 TGATG^GAGACtGAGAACCGCC Glycogen storage disease 2 CD961963 470 CATCACC^AACgagaCCGGCCAGCC Glycogen storage disease 2 CD941679 485 CGGGTCC^ACTgccttccccgactTCACCAACCC Glycogen storage disease 2 CD981928 674 CGGAAC^CACAacaGCCTGCTCAG Glycogen storage disease 2 CD951684 902 GCAGCTG^CAGaagGTGACTGTCC Glycogen storage disease 2 Description Phenotype <BR> <BR> 536 bp I17E18-332 to 18I19+39<BR> Glycogen storage disease 2<BR> <BR> (mutation described at genomic DNA level) Description Phenotype Ins C nt. 2741, ins G nt. 2743 Glycogen storage disease 2 Category 2-Transport and Storage Albumin Mutation type Total number of mutations Nucleotide substitutions (missense/nonsense) 21 ___ Nucleotide substitutions (splicing) 2 Nucleotide substitutions (regulatory) 0 Small deletions 2 Small insertions 1 Small indels 0 Gross deletions 0 Gross insertions & duplications 0 Complex rearrangements (including inversions) 0 Repeatvariations 0 TOTAL 26 Codon Codon Nucleotide Amino acid Phenotype<BR> <BR> Number GAT-GTTAsp-ValAlbuminvariantCM9100241 CM940018 3 aCAC-TAC His-Tyr Albumin variant CM910025-1 CGA-CAA Arg-Gln Albumin variant CM910026-2 CGT-CAT Arg-His Albumin variant CM900011-2 tCGT-TGT Arg-Cys Albumin variant CM940019 32 tCAG-TAG Gln-Term Analbuminaemia CM940020 114 cCGA-TGA Arg-Term Analbuminaemia CM910027 128 CAT-CGT His-Arg Albumin variant CM940021 214 TGGg-TGA Trp-Term Analbuminaemia CM920015 218 CGC-CAC Arg-His Albumin variant CM970070 218 CGC-CCC Arg-Pro Dysalbuminaemic hyperthyroxinaemia, familial CM940022 225 cAAA-CAA Lys-Gln Albumin variant CM940023 276 AAGg-AAC Lys-Asn Albumin variant CM940024 313 AAGg-AAT Lys-Asn Albumin variant CM910028 365 GAT-GTT Asp-Val Albumin variant CM910029 372 cAAA-GAA Lys-Glu Albumin variant CM900012 501 aGAG-AAG Glu-Lys Albumin variant CM930016 505 tGAA-AAA Glu-Lys Albumin variant CM940025 563 cGAT-AAT Asp-Asn Albumin variant CM910030 570 cGAG-AAG Glu-Lys Albumin variant CM940026 573 tAAA-GAA Lys-Glu Albumin variant <BR> <BR> <BR> <BR> <BR> Accession Location/<BR> <BR> Number codon CD941562 566 TAAGGAG^ACCtGCTTTGCCGA Albumin variant TGCTGCA^AGTcAAGCTGCCTTAnalbuminaemiaCD910474579 <BR> <BR> <BR> <BR> <BR> <BR> Accession<BR> InsertionNucleotideCodon Phenotype<BR> <BR> Number CI941818 9156 267 A Analbuminaemia Category 3-Structural Proteins Collagen IV alpha 3 Mutation type Total number of mutations Nucleotide substitutions (missense/nonsense) 2 Nucleotide substitutions (splicing) 1 Nucleotide substitutions (regulatory) 0 Small deletions 2 Smallinsertions 0 Smallindels 0 Grossdeletions 0 Gross insertions & duplications 0 Complex rearrangements (including inversions) 0 Repeat variations 0 TOTAL 5 Accession Codon Nucleotide Amino acid Phenotype Number CM940306 1481 aCGA-TGA Arg-Term Alport syndrome CM940307 1524 TCA-TGA Ser-Term Alport syndrome <BR> <BR> <BR> <BR> <BR> <BR> Accession Donor/ Relative<BR> IVS Phenotype<BR> <BR> <BR> <BR> Number Acceptor location CS951356 5 as-320 G-T Alport syndrome <BR> <BR> <BR> <BR> <BR> <BR> <BR> Accession Location/<BR> <BR> <BR> Number codon CD951631 1448 TTTGTC^TTCAcccgacaCAGTCAAACC Alport syndrome CD941648 1471 AGTGGGT^TTTcttttCTTTTTGTAC Alport syndrome Category 4-Immune Protection and inflammation Interleukin 4 receptor Mutation type Total number of mutations Nucleotide substitutions (missense/nonsense) I Nucleotide substitutions (splicing) 0 Nucleotide substitutions (regulatory) 0 Small deletions 0 Small insertions 0 Small indels 0 Gross deletions 0 Gross insertions & duplications 0 Complex rearrangements (including inversions) 0 Repeatvariations 0 TOTAL 1 Accession Codon Nucleotide Amino acid Phenotvpe<BR> <BR> Number CM970744 576 CAG-CGG Gln-Arg Atopy, association with Category 5-Generation and Transmission of Nervous Impulses Prion protein Mutationnumber of mutations Nucleotide substitutions (missense/nonsense) 14 Nucleotide substitutions (splicing) 0 Nucleotide substitutions (regulatory) 0 Smalldeletions 0 Smallinsertions 0 Small indels 0 Gross deletions 0 Gross insertions & duplications 0 Complex rearrangements (including inversions) 0 Repeat variations 0 TOTAL 14 AccessionNucleotide Amino acid Phenotvpe<BR> <BR> Number CM890102 102 CCG-CTG Pro-Leu Gerstmann-Straeussler syndrome CM930595 105 CCA-CTA Pro-Leu Gerstmann-Straeussler syndrome CM890103 117 GCA-GTA Ala-Val Gerstmann-Straeussler syndrome CM890104129cATG-GTGMet-ValGerstmann-Straeussler syndrome CM971202 171 AAC-AGC Asn-Ser Schizophrenia CM910305 178 cGAC-AAC Asp-Asn Creutzfeld-Jakob syndrome CM930596 180 cGTC-ATC Val-Ile Creutzfeld-Jakob syndrome <BR> <BR> CM971203 183 cACA-GCA Thr-Ala Spongiform encephalopathy, familial CM920588 198 TTC-TCC Phe-Ser Gerstmann-Straeussler syndrome CM890105 200 cGAG-AAG Glu-Lys Creutzfeld-Jakob syndrome CM961133 208 CGC-CAC Arg-His Creutzfeld-Jakob syndrome CM930597 210 gGTT-ATT Val-Ile Creutzfeld-Jakob syndrome CM920589 217 CAG-CGG Gln-Arg Gerstmann-Straeussler syndrome CM930598 232 ATG-AGG Met-Arg Creutzfeld-Jakob syndrome Category 6-Growth and Differentiation Vitamin D receptor Total number of mutations Nucleotide substitutions (missense/nonsense) 10 Nucleotide substitutions (splicing) 1 Nucleotide substitutions (regulatory) 0 Smalldeletions 0 Small insertions 0 Smallindels 0 Gross deletions 0 Gross insertions & duplications 0 ComplexComplexrearrangements (including inversions) 0 Repeat variations 0 TOTAL 11 Accession Codon Nucleotide Amino acid Phenotype<BR> <BR> <BR> Number<BR> <BR> <BR> <BR> <BR> CM971505 30 cCGA-TGA Arg-Term Rickets, vitamin D resistant<BR> <BR> <BR> <BR> <BR> CM880062 33 GGC-GAC Gly-Asp Rickets, vitamin D resistant CM961380 46 GGC-GAC Gly-Asp Rickets, vitamin D resistant CM910389 50 CGA-CAA Arg-Gln Rickets, vitamin D resistant CM880063 73 CGA-CAA Arg-Gln Rickets, vitamin D resistant CM900227 80 CGG-CAG Arg-Gln Rickets, vitamin D resistant CM930718 152 cCAG-TAG Gln-Term Rickets, vitamin D resistant CM930719 274 CGC-CTC Arg-Leu Rickets, vitamin D resistant CM890115 295 TACc-TAA Tyr-Term Rickets, vitamin D resistant <BR> <BR> CM971506 305 CACa-CAG His-Gln Rickets, vitamin D resistant<BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> <BR> RelativeAccessiondonor/ <BR> <BR> IVS Substitution Phenotype<BR> <BR> NumberAcceptor location CS961654 4 ds +5 G-C Rickets, vitamin D resistant The identification of the core group of genes considered to have an important effect on the physiological and pathophysiological processes of disease enables attention to be focussed on ascertaining, identifying and cataloguing the genetic vatriation within the core group of genes utilising tried and tested technologies and techniques.

EXAMPLE 6 IDENTIFYING AND DETECTING POLYMORPHIC VARIATION IN THE CORE LIST OF GENES The human genome is known to be highly variable in different individuals. Variation exists in approximately one nucleic acid residue in every 300. Although a single nucleic acid change (single nucleotide polymorphism, SNP e. g. Schafer and Hawkins 1997, Nickerson et al 1998, Rieder et al 1998, SNP Consortium 1999) is the commonest form of genetic variation, other more complex forms also occur for example: Type of variation Example Deletion intronic deletion in the angiotensin g converting enzyme gene Insertion 144bp insertion in the prion gene Repeats Huntingtin gene in Huntington's chorea These more complex forms of genetic variations account for more than 40% of the genetic changes associated with human disease.

Variations in human gene sequences, which are present in more than 1 % of the population, are known as polymorphisms. These changes in genetic sequence can be detected by a variety of methods, which allow the direct sequencing and correct alignment of nucleotides (e. g. the Sanger method). However, this method is prone to error and multiple runs are required to ensure accuracy. More recently (Schafer and Hawkins 1997, Gilles et al 1999) many other techniques have been developed to, accurately and sensitively, identify the presence of polymorphic variation based on: * restriction fragment length polymorphisms using Southern blots allele specific extensions of a detection primer using high fidelity enzymes scanning for single strand conformational polymorphisms 'gel mobility detection of heteroduplexs * detection of denaturing gradient differences using gel electrophoresis * ribonuclease cleavage of RNA: RNA or RNA: DNA heteroduplexes chemical cleavage of heteroduplex mismatches * gel based detection of resolvase cleavage using T4 endonuclease * radioactive labelling and multi-photon detection * detection of altered banding patterns on gels using cleavage fragment length polymorphisms * recognition of heteroduplex mismatches using E. Coli mismatch repair enzymes * DNA variation detection using denaturing high performance liquid chromatography # matrix assisted laser desorption/ionisation time of flight mass spectrometry # electronic array of DNA probes on silicon microchips Therefore, given an identified gene sequence, the technology to identify polymorphic variation is well established and is generally applicable to any section of the human genome.

(Nickerson et al 1998, Wang et al 1998, Rieder et al 1999).

In addition computational approaches can also be used to search for and assess polymorphic variation in existing gene sequence databases (as confirmed by Buetow et al 1999).

Thus the methods of generating the nucleotide sequence required for the design of an array or chip is well known to those skilled in the art.

However, for the purposes of an array design it would be useful to establish the frequency of a given polymorphism in the general population and thus derive a way of assessing its likely clinical importance. Polymorphisms are defined as being a genetic variation present in more than 1% of the population. In order to determine the frequency of a polymorphism in a given population a number of individual DNA samples will need to be investigated. The table below provides the number of DNA samples, which will need to be examined in order to determine the frequency of polymorphisms at a particular threshold of statistical certainty.

NUMBER OF DNA SAMPLES REQUIRED TO DETECT POLYMORPHISMS Minimum Allele Appears Once Appears Twice Statistical Frequency Certaitity > 1% 58 97 90% 75 119 95% 115 166 99% > 5% 12 19 90% 15 24 95% 23 33 99% > 10% 6 10 90% 8 12 95% 11 16 99% E. g. if a particular variant appears novice in 166 DNA samples, we can be 99% sure that the variant allele is present in >1% of the population.

The technologies and methodologies required for the identification and tabulation of polymorphic variation are of considerable value in the identification of genetic variation, which will be informative in the practice of medicine.

This invention provides a means of fusing the genomic and pharmacological profiles together with their clinical associations in such a way as to enhance and enable the provision of individually tailored therapeutic pacages for enhanced healthcare management.

In addition, the use of such devices and the tabulating of genomic variations that lead to or predispose to disease, will lead to revolutionary insights into the pathophysiology of diseases. These may well lead to the classical definitions of disease states being sub-divided or re-organised into specific genomic configurations, creating the potential for new therapeutic approaches (as indicated in Drews and Ryser 1997).

The actual demonstration of associations between disease, outcomes, adverse events or specific symptom clusters will emerge as the result of clinical trials and investigations using accepted approaches and methods.

EXAMPLE 7-ANALYSIS OF DATABASE TO ASCERTAIN GENOTYPE/PHENOTYPE RELATIONSHIPS The generation of genetic profiling data and its analysis alongside clinical information derived from patients presents considerable challenges for data handling and analysis.

The volume of information, number of information categories and the variable nature of the information (e. g. dimensional or categorical) ensure that the operation of a database combining genetic and clinical information to generate a prognostic outcome is a complex task.

However, the complexity can be dealt with using existing analytical approaches.

Association analysis between genetic polymorphisms can be dealt with by using standard statistical techniques (analysis of variance, meta-analysis etc) with appropriate corrections for multiple testing. The thresholds for statistical significance will be derived from scientific convention (e. g. significance at the 5% level following Bonnferoni correction). The data concerning genotype/phenotype relationships between the core group of genes and clinical signs and symptoms and therapeutic interventions will form a central component of the database.

The creation of a database containing and elaborating on such genotype/phenotype relationships will become an important tool for the practice of molecular medicine and the development of healthcare management. In order to derive benefit from such a database it must be capable (following interrogation using a patients profile of genetic variation derived from the core group of genes) of analysing the profile and providing a meaningful output to the healthcare professional which will provide guidance on the prognosis, healthcare management and therapeutic interventions appropriate to the patient.

The generation of such an output can be achieved using machine learning algorithms.

The genetic algorithm (Goldberg 1989, Fogarty and Ireson 1994) has been shown to provide a general process for achieving good results for search in large noisy domains.

Starting from a population of randomly generated points in a search space, and given an evaluation of each of those points, the genetic algorithm is designed to converge the population to an optimum point in the search space. Processes of data selection, crossover, mutation and replacement of old members of the dataset achieve this with new members of more value. The effective use of the genetic algorithm process is a representation of the search space, which is responsive to the heuristics, embodied in the genetic operators.

The user must also supply an evaluation function identifying the degree to which the point in space approaches an optimum ('weighting') such that the selection operator for propagation through the dataset can choose them.

The genetic algorithm can be used to find predictively meaningful categories that is: intervals of continuous attribute values 'sets of nominal attribute values * combinations of attributes Together these attributes can create a simple Bayesian classifier for aspects of healthcare management.

Additional techniques (e. g. Bahadur-Lazarsfeld expansion) enable second order approximation of dependencies between predictive attributes. This allows the full complexity of the individual's genetic variation profile and the specifics of their clinical, psychological and social state to be assessed in order to produce an output concerning their prognosis, healthcare management and the possibilities for therapeutic intervention.

Assembly of such data will allow the merging of accepted treatment algorithms with the polymorphic variation underlying specific aspects of genomic functionality. This will produce new algorithms that will provide a prognostic indication for individual patients and, coupled with the expertise of their responsible clinician, allow the appropriate healthcare decisions to be made in a pro-active way.

The identification of genetic variation in the core list of genes and its application to healthcare management will have significant beneficial effects on the way in which clinicians will be able to formulate plans for healthcare management.

This will be seen in at least two ways. The first by enabling the targeting of resources at appropriate individuals (see Example 8) and the second by enabling an objective risk assessment of the optimum configuration for different types of therapeutic intervention (e. g drugs, surgery, radiotherapy, occupational therapy) and the identification of those patients at significant risk of suffering adverse events from therapeutic intervention (see Example 9).

EXAMPLE 8-CLINICAL MANAGEMENT OF FAMILIAL ADEMATOUS POLYPOSIS Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which typically presents with colorectal cancer (CRC) in early adult life secondary to extensive adenomatous polyps of the colon. Polyps also develop in the upper gastrointestinal tract and malignancies may occur in other sites including the brain and the thyroid. Helpful diagnostic features include pigmented retinal lesions known as congenital hypertrophy of the retinal pigment, jaw cysts, sebaceous cysts, and osteomata. The APC gene at 5q21 is mutant in FAP.

CLINICAL FEATURES Familial adenomatous polyposis (FAP) is characterized by adenomatous polyps of the colon and rectum; in extreme cases the bowel is carpeted with a myriad of polyps.

This is an aggressive premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. Carcinoma may arise at any age from late childhood through the seventh decade. The presenting features are usually those of malignancy, such as weight loss and inanition, bowel obstruction, or bloody diarrhea. Cases of new mutation still present in these ways but in areas with well organized registers most other gene carriers are detected by bowel examination while still asymptomatic.

Occasionally, the extracolonic features of the condition lead to presentation.

Petersen et al. (1993) demonstrated the feasibility of presymptomatic direct detection of APC mutations in each of 4 families. No change in the conventional FAP colon screening regimen was recommended for children found to have a mutation. In contrast, when direct tests indicated that an individual did not have the mutation, they recommended that screening be decreased. Three of the mutations were nonsense mutations and one was a frameshift mutation due to insertion of 1 nucleotide. In an evaluation of molecular genetic diagnosis in the management of familial polyposis, Maher et al. (1993) concluded that intragenic and closely linked DNA markers are informative in most families and that, in addition to the clinical benefits of presymptomatic diagnosis, the reduction in screening for low-risk relatives means that molecular genetic diagnosis is a cost-effective procedure.

Davies et al. (1995) found that families with mutations 3-prime of codon 1444 had significantly more lesions on dental panoramic radiographs (P less than 0.001) and appeared to have a higher incidence of desmoid tumors than did families with mutations at the 5-prime end. All 7 families except one with mutations 5-prime of exon 9 did not express CHRPE. All of 38 individuals from 16 families with mutations between exon 9 and codon 1444 expressed CHRPE. The 11 individuals from 4 families with mutations 3-prime of codon 1444 did not express CHRPE. These results suggested that the severity of some of the features of Gardner syndrome may correlate with genotype in FAP.

Since an alteration of the APC gene occurs early in most colorectal tumors, detection of APC mutations in fecal tumor DNA could be a powerful tool for the diagnosis of noninvasive cancer. Deuter and Muller (1998) described a highly sensitive and nonradioactive heteroduplex-PCR method (HD-PCR) for detecting APC mutations in stool DNA.

Petersen et al. (1989) demonstrated how one could use linkage information to modify the standard recommendations for follow-up. For example, in the family of an affected 36-year-old man with a positive family history of APC, there were 4 asymptomatic children under the age of 10 years. Before linkage analysis, all children had a 50% risk. Screening protocols would call for annual sigmoidoscopy in all beginning at age 12 years. With the linkage information, one could state to the family with 98% confidence that 3 of the children did not inherit the gene and that 1 child did. That child could be screened annually; the others would have screening every 3 years beginning at ages 12 or 13 and continuing until age 35.

EXAMPLE 9-GENETIC VARIATION IN DRUG TARGETS AND DRUG METABOLIZING ENZYMES Therapeutic intervention by the use of drugs is a common mode of clinical treatment.

However, this is not without difficulty (Weatherall, Leadingham and Warell 1996) and even hazard (Lazarou et al 1998). Drugs interact with the body in many different ways to produce their effect. Some drugs act as false substrates of inhibitors for transport systems (e. g. calcium channels) or enzymes (acetylcholinesterase). Most drugs however, produce their effects by acting on receptors, usually located in the cell membrane, which normally respond to endogenous chemicals in the body (Weatherall, Leadingham and Warrell 1996). Drugs that activate receptors and produce a response are called agonists (e. g cholinomimetics). Antagonists combine with receptors but do not activate them, thus reduceing the probability of the transmitter substance combining with the receptor and so blocking receptor activation.

The ability of the drug to interact with the receptor depends on the specificity of the drug for the receptor or'target' (Brody, Lamer and Minneman 1998).

In addition to the main categories of agonist and antagonist, drugs also have mechanisms of action whereupon they interact with specific types of molecules- targets'-that include: blockade of uptake or transport sites (e. g selective serotonin reuptake inhibitors) enzyme inhibition (e. g. angiotensin convertying enzyme inhibitors, acetylcholinesterase inhibitors) blockade of ion channels (calcium channel antagonists, anaesthetics) However, many drugs are known to vary in their efficacy and side effects from patient to patient. This variation in drug response will be associated with the polymorphic variation in the drug target.

CNS MARKETED DRUGS Drug Drug Target Polymorphi Tricyclic antidepressants Neurotransmitter (NA/5-HT) re-uptake/ (TCA) proteins (NET & SERT) SSRIs Selective serotonin transport re-uptake # protein (SERT) MAOIs Monoamine oxidase A & B/ Benzodiazepines (GABA GABA receptors facilitators)/GABA antagonists. Barbiturates. Beta-blockers Noradrenaline (beta-adrenergic) receptors Atypical antidepressants Alpha-adrenoceptors/ Beta-adrenoceptors Beta-adrenoceptors antagonists Dopamine blockers/boosters Dopamine receptors Dopamine blockers/Dopamine transporter (DAT1)/ boosters/depleters Anticholinergics (muscarinic Muscarinic receptors antagonists) Anticholinergics Nicotinic receptors (nicotinic antagonists) Anticholinesterases Acetylcholinesterase (ACHE) COMT inhibitor Catechol-O-methyltransferase (COMT) Sodium channel blocker Sodium channel Opioid analgesics & Opioid receptors (OPRM1; OPRK1; antagonists OPRD1) Antipsychotics/neuroleptics 5-HT/D2 receptors (5-HT/D2 antagonists) Antiinflammatory drugs Cyclooxygenase (COX1, COX2)/ Antihistamines Histamine # CARDIOVASCULAR MARKETED DRUGS Drug Drug Target Polymor tic? ACE inhibitors Angiotensin converting enzyme (ACE)# HMG CoA reductase HMG CoA reductase inhibitors, e.g simvastatin Angiotensin II antagonists Angiotensinogen Calcium channel blocker Calcium channel Thromboxane A2 synthase Thromboxane A2 synthase inhibitor A2 receptor antagonist Thromboxane A2 receptor Potassium channel blocker Potassium channel/ Na-H ion exchange (NHE) Na-H ion exchanger (NHE) # inhibitor bile acid transport inhibitor SLCl OA1 (sodiumlbile acid cotransporter) bile acid transport inhibitor SLCIOA2 (sodiumlbile acid cotransporter) J platelet aggregation inhibitor Von Willebrand factor ACATinhibitor Acetoacetyl-CoA-thiolase (ACAT) vf Endothelin antagonist Endothelin (EDN3) */ GASTROINTESTINAL (Peptic ulcer) MARKETED DRUGS Drug Drug Target Polymor sic? Proton pump inhibitor (e. g H+/K+ adenosine triphosphatase (ATPase) J omeprazole), enzyme system, ('proton pump') H2 antagonists Histamine H2-receptor (e. g. cimetidine) Muscarinic antagonists Muscarinic ml & m3 receptors (e. g. pirenepine) Prostaglandins (inhibit Adenylate cyclase, hista » zine-indtcced cAMP) activitv Another problem the medical practitioner faces, is that certain patients may be particularly susceptible to drug addiction. Examples of drugs with known addictive properties are Amphetamines, Temazepam and Phenobarbitone, although having approved medicinal use e. g. phenobarbitone for epilepsy, they may cause problems of dependency and misuse in individuals. Knowledge of such an individual's susceptibility before prescribing certain drugs would be an advantage to the medical practitioner.

Any drug may produce unwanted or unexpected adverse events, these can range from trivial (slight nausea) to fatal (aplastic anaemia). One of the main reasons for adverse events following drug intake is the drug binding to a non specific or non target receptors in the body (Brody, Lamer and Minneman 1998). Another reason is the interaction of the drug with other drugs given to the patient. This is a particular problem in the elderly who frequently suffer from multiple illnesses requiring many different classes of drugs and providing a real potential for drug interactions (Weatherall, Leadingham and Warrell 1996). The drug may also produce adverse events over time as the drug is absorbed, distributed, metabolised and excreted e. g. products of metabolising the drug may be reactive themselves and be toxic to the body. Being able to predict the likelihood of a particular individual suffering from an adverse event and the severity of that event would be an important tool for the practitioner. Many of the important components of the biological pathways involved in drug metabolism are coded by genes containing polymorphic variation.

METABOLISING ENZYMES Drug Drug-metabolising enzyme Polymor phic? Most Cytochrome P450 enzyme, CYP2C 19, Most Cytochrome P450 enzyme, CYP2D6/ Most UDP-glucuronosyltransferase/ Most N-acetyltransferase (NAT 1)/ Most Methyltransferase/ Most Sulphotransferase/ Most NADPH-cytochrome p450 reductase/ The inventory of drugs and preparations both registered and in development which can be matched to drug targets exhibiting genetic polymorphisms can be found in standard works of reference, in particular the British National Formulary, 1998, the Dental Practioners'Formulary, 1998, Martindale, 1998, Herbal medicines, 1998.

Drugs available in the United States can be found in U. S. Pharmacopeia, 1998, and drugs available in Japan can be found in Iryoyaku Nihon Iyakuhinshu, 1998, Ippanyaku Nihon Iyakuhinshu, 1998 and Hokenyaku Jiten, 1998. Drugs available in other countries can be found in the appropriate National Formularies. A list of drugs currently under development worldwide can be found in current journals and text (Pipeline pulse, 1999, Scrip, 1998, IDrugs, 1998, Current Opinion in Drug Discovery and Development, 1998).

The use of the Genostic approach described above would be of considerable utility in determining the likelihood and magnitude of therapeutic response to individual and combinations of drugs in the inventories described above. Such difficulties can arise from adverse events, variations in metabolism and drug-drug interactions in situations where several diseases, requiring treatment, exist in a given patient. The potential for adverse events or deleterious outcomes could be ascertained in individuals, patients or populations in relation to all of the drugs referred to above. These factors are of considerable importance in enabling the selection and monitoring of therapeutic interventions and effective healthcare management.

There are a number of different aspects to this invention. With the GENOSTICTM approach, it would be possible to configure a different set of genes for each therapeutic area, across the whole of medicine, and for therapeutic intervention. The table below shows examples of the types of diseases included in each of the GENOSTICTM therapeutic areas. Therapeutic Area Diseases ADME Drug absorption, distribution, metabolism & excretion (ADME), toxicicity, responses to therapeutic intervention. Oncology Cancers, carcinomas, sarcomas, gliomas Central Nervous System Neurological (e. g. retinal disorders, multiple sclerosis), neuropsychiatric, psychiatric, psychological & social dysfunction, disease and damage. Behavioural disturbance Aggression, violent behaviour, anxiety, sleep disorder, attention deficit disorder, appetitive disorder, addiction, depression, bipolar affective disorder Brain damage Head injury, mental retardation, epilepsy, stroke, seizures, brain tumors Dementia Alzheimer's, Parkinson's, Huntington's, prion diseases, epilepsy, neurodegeneration, Psychoses & personality Schizophrenia, OCD, depression, bipolar affective disorder Cardiovascular Heart faiiure, hypertension, vasculitis, arrhythmia, cholesterolaemia, cardiomyopathy, atherosclerosis, valvular disease, coarctation, aneurysms, blood disorders, COPD. ulcers,duodenalulcers,GastrointestinalGastric peptic ulcers, kidney disease, liver, pancreas, urinary, GERD (heartburn), I nausea, diabetes mellitus, obesity Respiratory Lungs, anoxia, hypoxia, breathing problems, asthma, I COPD, allergies immunity injury, inflammation, infection, AIDS Development Growth, differentiation, developmental disorders. Skin, bone, muscle Cornea disease, abnormal pigmentation, conductive hearing loss, arthritis, osteoporosis, myopathies, muscular atrophy, myositis, myoblastoma, eczema, dermatitis. Metabolic & endocrine Metabolism, reproduction, obesity Hormone action, diabetes Headache Migraine; trauma, infection Sexual dysfunction Infertility, impotency, male erectile dysfunction, female reproductive disorders In a first aspect.

ADME (ABSORPTION, DISTRIBUTION, METABOLISM & ELIMINATION) & TOXICOLOGY The invention relates to a method of assessing the most appropriate therapeutic intervention in an individual, patient, group or population suffering from the debilitating consequences of dysfunction, damage or disease of the body and its systems.

People vary enormously in their response to disease and also in their response to therapeutic interventions aimed at ameliorating the disease process and its progression. However, the provision of medical care and medical management is centered around observations and protocols developed in clinical trials on groups or cohorts of patients plan (Wetherall, Leadingham and Warrell 1996). This group data is used to derive a standardised method of treatment which is subsequently applied on an individual basis (e. g. the comment that drugs are often prescribed on the basis that everyone is an 70kg white male).

It is standard practice for clinicians to prescribe the same starting dose of a particular drug for a given indication and then adjust the treatment regimen by monitoring the progress of the disease and therapeutic response in individual patients. Observation of actual therapeutic outcome following these adjustments to patients therapy provides, the basis for determining a prognosis for the disease and developing a clinical management plan for patient care (eg. see Fig 1, algorithm for management of schizophrenia, from Fig 1 Taylor and Kerwin 1997, Fig 2 algorithm for treatment of depression from Fig 1 Pathare and Paton 1997).

The standard practice of clinical management has its disadvantages. In particular it is retro-active in that changes to patient management will occur following the emergence of therapeutic failures, adverse events or other difficulties in undertaking the therapeutic regime.

The toxicological effect of any treatment involves four main pathways, Absorption, Distribution, Metabolism and Elimination, better known as ADME. The most important axiom of toxicology is that"the dose makes the poison". Therefore variation in genes affecting the Absorption, Distribution, Metabolism and Elimination (ADME) of'therapeutic'substances, accounts for much of the difference in individuals risk of toxicity.

Drugs interact with the body in many different ways to produce their effect. Some drugs act as false substrates of inhibitors for transport systems (e. g. calcium channels) or enzymes (acetylcholinesterase). Most drugs however, produce their effects by acting on receptors, usually located in the cell membrane, which normally respond to endogenous chemicals in the body (Weatherall, Leadingham and Warrell 1996).

Drugs that activate receptors and produce a response are called agonists (e. g cholinomimetics). Antagonists combine with receptors but do not activate them, thus reducing the probability of the transmitter substance combining with the receptor and so blocking receptor activation. The ability of the drug to interact with the receptor depends on the specificity of the drug for the receptor or'target'(Brody, Larner and Minneman 1998).

In addition to the main categories of agonist and antagonist drugs also have mechanisms of action which include: blockade of uptake or transport sites (e. g selective serotonin reuptake inhibitors) * enzyme inhibition (e. g. angiotensin convertying enzyme inhibitors, acetylcholinesterase inhibitors) * blockade of ion channels (calcium channel antagonists, anaesthetics) Any drug may produce unwanted or unexpected adverse events, these can range from trivial (slight nausea) to fatal (aplastic anaemia). According to a recent article published in JAMA (Lazarou J, Pomeranz BH, Corey PN. 1998. Incidence of adverse drug reactions in hospitalised patients : a 1neta-analysis of prospective studies. JAMA Apr 15; 279 (15) : 1200-5), in 1994, in US, 106,000 deaths were caused by adverse drug reactions, making ADRs the fourth leading cause of death in US. One of the main reasons for adverse events following drug intake is the drug binding to non- specific or non-target receptors in the body (Brody, Lamer and Minneman 1998).

Another reason is the interaction of the drug with other drugs given to the patient.

This is a particular problem in the elderly who frequently suffer from multiple illnesses requiring many different classes of drugs and providing a real potential for drug interactions (Weatheral, Leadingham and Warrell 1996). The drug may also produce adverse events over time as the drug is absorbed, distributed, metabolised and excreted e. g. products of metabolising the drug may be reactive themselves and be toxic to the body. Being able to predicting the likelihood of particular individuals suffering from an adverse event and the severity of that event would be important tool for the practitioner.

Another problem the medical practitioner faces, is that certain patients may be particularly susceptible to drug addiction. Examples of drugs with known addictive properties are Amphetamines, Temazepam and Phenobarbitone, although having approved medicinal use e. g. phenobarbitone for epilepsy, they may cause problems of dependencv and misuse in individuals. Knowledge of such an individual's susceptibility before prescribing certain drugs would be an advantage to the medical practitioner.

The core list of genes for the ADME Genostic, would prove of considerable value in aiding decisions concerning the appropriateness and relevance of therapeutic interventions using many drugs. The use of the ADME Genostic would be of considerable utility in determining the likelihood and magnitude of therapeutic response, complications from drug-drug interactions, the potential for adverse events and the difficulties that might arise due to previous, concurrent or future dysfunction, damage or disease of body systems in an individual, patient, group or population. All of these factors are of considerable importance in enabling the selection and monitoring of therapeutic interventions and effective healthcare management.

In addition, the core list of genes in the ADME genostic would also be of considerable utility in enhancing the analysis of clinical trial data derived from drugs in development.

A list of drugs currently on the market can be found in standard works of reference, in particular the British National Formulary, 1998, the Dental Practioners'Formulary, 1998, Martindale, 1998, Herbal medicines, 1998. Drugs available in the United States can be found in U. S. Pharmacopeia, 1998, and drugs available in Japan can be found in Iryoyaku Nihon Iyakuhinshu, 1998, Ippanyaku Nihon Iyakuhinshu, 1998 and Hokenyaku Jiten, 1998. Drugs available in other countries can be found in the appropriate National Formularies. A list of drugs currently under development worldwide can be found in current journals and text (Pipeline pulse, 1999, Scrip, 1998, IDrugs, 1998, Current Opinion in Drug Discovery and Development, 1998).

In a recent review entitled,'Drug-metabolism research challenges in the new millenium: individual variability in drug therapy and drug safety', it has been stated that: "with the rapid progress in the understanding of genetic polymorphism and the development of genechip technology, it becomes quite feasible for individuals to be genotyped with respect to critical genes targeted for drug intervention and genes essential for drug transport and metabolism....... the (future) objective is to identify key genetic variations that could impact drug response and drug safety."A. Y. H. Lu, (1998) Drug metabolism and disposition, Vol 26 (12) pl217-1222.

There is a wealth of information available on the genetic polymorphisms of enzymes involved in drug metabolism. Genetic variation in genes coding for proteins which act as drug metabolising enzymes, drug transporters, DNA repair enzymes, or drug targets can lead to the production of defective enzymes or altered receptor binding affinities. This can have profound effects on the drug efficacy, drug safety and optimal drug dosage. The genetic variation in these genes has been identified and is included in our ADME core list of genes.

The following tables give examples of genes in which polymorphisms are known to be associated with variation in response to drugs.

DRUG ABSORPTION Drug Drug-transporter, membrane protein Polymor tic? All P-glycoprotein 1 (MDRI) I/ All P-glycoprotein 3 (MDR3) J DRUG DISTRIBUTION Drug Drug-binding plasma protein Polymor phic? All Serum albumin (ALB)/ All Alpha 1 acid glycoprotein (AAG)/ All Canalicular multispecific organic anion transporter «/ (CMOATor MRP2) All Multidrug resistance associated protein (MRP1),/ All Cytokine-suppressive antiinflammatory drug- binding protein 1 (CSBP 1) DRUG METABOLISM Drug Drug-metabolising enzyme Polymor tic? All Cytochrome P450 enzymes (CYP2C19; CYP2D6) # All UDP-glucuronosyltransferase/ All N-acetyltransferase (NAT 1)/ All NADPH-cytochrome DRUG ELIMINATION Drug Drug-excretion protein Polymor tic? All Bile salt export pump (BSEP) # All Sodiunv'bile acid cotransporter, (SLClOA1 ; SLC1OA2) DRUG TARGETS FOR CNS MARKETED DRUGS Drug Drug Target Polymorphi c? Tricyclic antidepressants Neurotransmitter (NA/5-HT) re-uptake/ (TCA) proteins (NET & SERt) SSRIs Selective serotonin transport re-uptake # protein(SERT) MAOIs monoamine oxidase A & B/ Benzodiazepines(GABA GABA receptors/ facilitators)/GABA antagonists.Barbiturates. Beta-blockers Noradrenaline (beta-adrenergic) receptors Atypical antidepressants Alpha-adrenoceptors/ Beta-adrenoceptorsBeta-adrenoceptors antagonists Dopamine blockers/boosters Dopamine receptors DopamineDopamineblockers/ transporter # boosters/depleters Anticholinergics (muscarinic Muscarinic receptors antagonists) Anticholinergics Nicotinic receptors (nicotinicantagonists) Anticholinesterases Acetylcholinesterase (ACHE) COMT inhibitor Catechol-O-methyltransferase/ (COMT) Sodium channel blocker Sodium channel Opioid analgesics & Opioid receptors (OPRM1; OPRK1 ;/ antagonists OPRD1) Antipsychotics/neuroleptics 5-HT/D2 # (5-HT/D2antagonists) Antiinflammatory drugs Cyclooxygenase (COX1, COX2) # Antihistamines Histamine receptors/ DRUG TARGETS FOR CNS DRUGS IN DEVELOPMENT Drug Drug Target Polymor phic? Selective NAT inhibitors Noradrenaline transport reuptake protein # (SNRIs) NET)or 5-HT1A-agonist5-HT1A-agonist5-HT1A receptor # Selective 5-HT2A antagonist 5-HT2A receptor (HTR2A) Clozapine (MAOI) 5-HT2C receptor (HTR2C)/ Glycine antagonist Glycine receptor (GLRA2) # Cannabinoid receptor agonist Cannabinoid receptor (CNR1) (THC) Calcium channel blocker Calcium channels # DRUG TARGETS FOR CARDIOVASCULAR MARKETED DRUGS Drug Drug Target Polymor phic? ACE inhibitors Angiotensin converting enzyme (ACE) # HMG CoA reductase HMG CoA reductase inhibitors,e. g simvastatin Angiotensin II antagonists Angiotensinogen (AGT) $ Calcium channel blocker Calcium channel Thromboxane A2 synthase Thromboxane A2 synthase inhibitor A2 receptor antagonist Thromboxane A2 receptor Potassium channel blocker Potassium channel Na-H ion exchange (NHE) Na-H ion exchanger (NHE) inhibitor I bile acid transport inhibitor SLC10A1 (sodium/bile acid cotransporter) bile acid transport inhibitor SLC 1 OA2 (sodiurn/bile acid cotransporter) platelet aggregation inhibitor Von Willebrand factor/ ACAT inhibitor Acetoacetyl-CoA-thiolase (ACAT)/ Endothelin antagonist Endothelin (EDN3)# DRUG TARGETS FOR GASTROINTESTINAL DISEASE (Peptic ulcer) MARKETED DRUGS Drug Drug Target Polymor chic? Proton pump inhibitor (e. g H+/K+ adenosine triphosphatase (ATPase) </ omeprazole). enzyme system ('proton pump') H2 antagonists Histamine H2-receptor */ (e.g.cimetidine) Muscarinic antagonists Muscarinic ml & m3 receptors/ (e.g.pirenepine) Prostaglandins (inhibit Adenylate cyclase, histamine-induced/ cAMP) activity DRUG TARGETS FOR RESPIRATORY DISEASE (Asthma & Allergy) MARKETED DRUGS Drug Drug Target Polymor phic? Beta-2-agonists Beta-2-adrenoceptor/ (Bronchiodilators) Muscarinic antagonists Muscarinic receptors (Bronchiodilators) Histamine antagonists Histamine receptors (Antihistamines) Thromboxane A2 synthase Thromboxane A2 synthase # inhibitor A2 receptor antagonist Thromboxane A2 receptor/ DNA REPAIR Drug DNA repair enzyme Polymor phic? All 0 (6)-methylguanine-DNA methyltransferase (MGMT) All DNA damage binding protein (DDB 1) All DNA-damage-inducible transcript 3 (DDIT3)/ All RAD52/ We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION ADME GENE LIST HUGO gene Protein symbol function 5-adenosyl homocysteine hydrolase E Acetoacetyl1-CoA-thiolase ACAT1 E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyl CoA acyltransferase ACAA E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Actin,beta ACTB S Actin, gamma 2 ACTG2 S Acyl CoA dehydrogenase, short chain ACADS E Adeninephosphoribosyltransferase APRT T Adenosine deaminase ADA E Adenosinemonophosphate deaminase AMPD E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adenylatekinase AK1 E Adenylatetransferase E Adenylosuccinatelyase ADSL E ADP-ribosyltransferase ADPRT E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Adrenoleukodystrophy gene ALD E Albumin, ALB ALB T Alkaptonuriagene AKU G Alpha 1 acid glycoprotein AAG ; AGP T <BR> <BR> alpha1-antitrypsin Pl E<BR> <BR> <BR> <BR> <BR> alpha2-antiplasmin PLI E alpha-amylase E <BR> <BR> Alpha-fetoprotein AFP G alpha-glucosidase, neutral AB GANAB E <BR> <BR> alpha-glucosidase, neutral C GANC E<BR> <BR> <BR> <BR> Aminomethyltransferase AMT E Aminopeptidase P XPNPEP2 E Amyloid beta (A4) precursor protein-binding, APBB1 N APBB1 Amyloidbeta A4 precursor protein APP N Androgen binding protein ABP T Androgen receptor AR G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Annexin 1 ANX 1 I Apurinicendonuclease APE E Argininevasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Aryl hydrocarbon receptor AHR T Arylsulfatase E ARSE E Aspartate transcarbamoylase E Ataxia telangiectasia gene, AT ATM G ATP cobalamin adenoxyltransferase E ATP sulphurylase atpsk2 E ATP/ADP translocase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G BCL2-associated X protein BAX G Benzodiazepine receptor N beta-endorphin receptor N Bile acid coenzyme A: amino acid N-BAAT E acyltransferase Bile salt export pump BSEP, PFIC2 T Bile salt-stimulated lipase CEL E Bilirubin UDP-glucuronosyltransferase E Biliverdin reductase T Bleomycin hydrolase BLMH E Bradykinin receptor B1 <BR> <BR> Bradykinin receptor B2 I Breakpoint cluster region BCR G Breast cancer 1 BRCA1 G Breast cancer 2 BRCA2 G Brush border guanylyl cyclase E Butyrylcholinesterase BCHE E Ca (2+) transporting ATPase, fast twitch ATP2A1 T Ca (2+) transporting ATPase, slow twitch ATP2A2 T <BR> <BR> CaicineurinA1 CALNA1 Calcineurin A2 CALNA2 I Calcineurin A3 CALNA3 I Calcineurin B I Calcitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1 A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Canalicular multispecific organic anion CMOAT T transporter Cannabinoid receptor CNR1 N Carbamoylphosphate synthetase 1 CPS1 E Carbamoyl phosphate synthetase 2 CPS2 E Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonicanhydrase, aipha CA1 E Carbonic anhydrase, beta CA2 E Carnitine transporter protein CDSP, SCD T Carnosinase N Cartilage-hair hypoplasia gene CHH N <BR> <BR> Catalase CAT I<BR> <BR> <BR> <BR> <BR> Catechol-O-methyltransferase COMT E Catenin, beta CTNNB1 G Cell adhesion molecule, vascular, VCAM VCAM1 G Cholecystokinin CCK N Choiecystokinin B receptor CCKBR N Cholesterol ester transfer protein CETP T Choline acetyltransferase CHAT E CoA transferase E Colony-stimulating factor 1 CSF1 G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 3 CSF3 G Colony-stimulating factor3 receptor CSF3R G Complex V MTATP6 E Coproporphyrinogen oxidase CPO E Cortico-steroid binding protein T Corticosteroid nuclear receptor I Corticotrophin-releasing hormone receptor CRHR1 T Creb binding protein CREBBP G Crystallin, alpha A CRYAA S Crystallin, alpha B CRYAB S Crystallin, beta B2 CRYBB2 S Crystallin, gamma A CRYGA S Cu2+ transporting ATPase alpha polypeptide ATP7A E Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP response element binding protein CREB G Cyclic AMP response element modulator CREM G Cyclic AMP-dependent protein kinase PKA E Cyclic nucleotide phosphodiesterase 1B PDE1B E Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclin F CCNF G Cyclin-dependent kinase inhibitor 1A (P21, CDKN1A G CIP1) Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E <BR> <BR> Cyclophilin@ CYP11A1 CYP11A1 E CYP11B1CYP11B1E ECYP11B2CYP11B2 ECYP17CYP17 ECYP19CYP19 ECYP1A1CYP1A1 CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E ECYP27B1PDDR CYP2A1 CYP2A1 E ECYP2A13CYP2A13 ECYP2A3CYP2A3 <BR> <BR> <BR> CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E ECYP2E1CYP2E1 CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E ECYP51CYP51 CYP5A1CYP5A1E CYP7A CYP7A E ECYP8CYP8 Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytokine-suppressive antiinflammatory drug-CSBP1 binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 binding protein 2 Deoxycytidine kinase DCK E Deoxyuridine triphosphatase; dUTPase E DHEAsulfotransferase STD E Dihydrodiol dehydrogenase 1DDH1E Dihydrofolate reductaseDHFRE Dihydrolipoamide branched chain transacylase DBT N Dihydrolipoamide dehydrogenase DLD N Dihydrolipoyl dehydrogenase 2 PDHA E Dihydrolipoyl transacetylase PDHA E Dihydroorotase E Dihyropyrimidine dehydrogenase DPYD E Disrupted meiotic cDNA 1, homolog DMC1 G DNA damage binding protein, DDB1 DDB1 S DNA damage binding protein, DDB2 DDB2 S <BR> <BR> DNA directed polymerase, alpha POLA E DNAglycosylases E DNA helicases E DNA Ligase 1 LIG1 E DNAmethyltransferase DNMT E DNA polymerase 1 E DNA polymerase 2 E DNA polymerase 3 E DNAprimase E DNA-damage-inducible transcript 3 DDIT3 S DNA-dependant RNA polymerase E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N <BR> <BR> Erythropoietin EPO I Erythropoietin receptor EPOR Estrogen receptor ESR G Excision repair complementation group 1 ERCC1 E protein Excision repair complementation group 2 ERCC2 E protein Excision repair complementation group 2 ERCC3 E protein Excision repair complementation group 4 ERCC4 E protein Excision repair complementation group 6 ERCC6 E protein Factor H HF1 I <BR> <BR> Factor IX F9 I Factor VII F7 I Factor VIiI F8 I <BR> <BR> Factor X F10 I Fatty acid binding proteins FABP1 T Fatty acid binding proteins FABP2 FABP2 T Fatty acid binding proteins FABP3 T Fatty acid binding proteins FABP4 T Fatty acid binding proteins FABP5 T Fatty acid binding proteins FABP6 T Fibroblast growth factor FGF1 G Flavin-containing monooxygenase 1 FM01 E Flavin-containing monooxygenase 2 FM02 E Flavin-containing monooxygenase 3. FM03 E Flavin-containing monooxygenase 4 FM04 E <BR> <BR> Folic acid receptor FOLR G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Forkhead transcription factor 10 FKHL10 G Forkhead transcription factor 14 FKHL14 G Forkhead transcription factor 7 FKHL7 G G/T mismatch binding protein GTBP, MSH6 G GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABAtransaminase ABAT E Gadd45 (growth arrest & DNA-damage-inducible protein) E Galactose 1-phosphate uridyl-transferase GALT E Gamma-glutamyl carboxylase GGCX T Gamma-glutamyltransferase 1 GGT1 T Gamma-glutamyltransferase 2 GGT2 T Gastric inhibitory polypeptide receptor, GIPR GIPR T Gastric lipase, LIPF T Glucagon receptor GCGR G Glucocorticoid receptor GRL G Glucosaminyl (N-acetyl) transferase 2, I-GCNT2 E branching enzyme Glucosidase, acid beta GBA E Glutamate decarboxylase, GAD GAD1 E Glutamate receptor1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N <BR> <BR> Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutamine phosphoribosylpyrophosphate amidotransferase/PRPP E amidotransferase Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E Glutathione peroxidase, GPX2 GPX2 E Glutathione reductase, GSR GSR E Glutathione S-transferase mu 1, GSTM1 GSTM1 E Glutathione S-transferase mu 4, GSTM4 E Glutathione S-transferase theta 1, GSTT1 GSTT1 E Glutathione S-transferase theta 2, GSTT2 E Glutathione S-transferase, GSTP1 GSTP1 E Glutathione S-transferase, GSTZ1 GSTZ1 E Glutathione synthetase GSS E <BR> <BR> Glyceraldehyde-3-phosphatedehydrogenase, GAPDH E GAPDH Glycinamide ribonucleotide (GAR) GART E transformylase Glycine receptor, alpha GLRA2 N Glycine receptor, beta N Glycine transporter GLYT N Gonadotropin releasing hormone GNRH G Gonadotropin releasing hormone receptor GNRHR G Growth arrest-specific homeobox GAX G Growth hormone 1 GH1 G Growth hormone 2 (placental) GH2 G Growth hormone receptor GHR G Growth hormone releasing hormone (GHRH) GHRH G Growth hormone releasing hormone receptor GHRHR G GTP cylcohydrolase 1 GCH1 G GTPase-activating protein, GAP RASA1 G Guanidinoacetate N-methyltransferase GAMT E Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNAI1 Guanine nucleotide-binding protein, alpha GNAI2 N inhibiting activity polypeptide 2, GNA12 Guanine nucleotide-binding protein, alpha GNA13 N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanylate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylate kinase E Guanylin GUCA2 T Guanylyl cyclase E H (+), K (+)-ATPase ATP4B N Heat shock protein, HSP60 I Heat shock protein, HSP70 I Heat shock protein, HSP90 I Hemopexin HPX I Hepatic lipase LIPC E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N HLH transcription factor HAND1 HAND1 G HLH transcription factor HAND2 HAND2 G HMG-CoAlyase HMGCL E HMG-CoA reductase HMGCR E HMG-CoA synthase HMGCS2 E Hormone-sensitive lipase HSL E HSSB, replication protein E Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT tbonudeoside diphosphate reductase E Ikaros gene IKAROS G Inosine monophosphate dehydrogenase, E IMPDH Inosine triphosphatase ITPA E Inositol monophosphatase IMPA1 N Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 receptor IGF2R G IFNA1IInterferonalpha Interferon beta!FNB <BR> <BR> Interferon gamma IFNG I Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I Interferon regulatory factor 1 IRF1 I factor4IRF4IInterferonregulatory receptorIL1RIInterleukin(IL)1 alphaIL1AIInterleukin(IL)1, Interleukin (IL) 1, beta IL1B I <BR> <BR> Interieukin (IL) 10 IL10 I Interleukin (IL) 10 receptor IL10R I Interleukin(IL) 11 I Interleukin(IL)Interleukin(IL)11 receptor I <BR> <BR> Interleukin (IL) 12 IL12 Interleukin(IL) 12 receptor, beta IIL12RB1 Interleukin(IL) 13 I Interleukin(IL) 13 IIL13R IL2IInterleukin(IL)2 Interleukin (IL) 2 receptor, alpha IL2Ra I Interleukin (IL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 Interleukin (IL) 3 receptor IL3R I <BR> <BR> Interleukin (IL) 4 IL4 I Interleukin (IL) 4 receptor IL4R I IL5IInterleukin(IL)5 receptorIL5RIInterleukin(IL)5 Interleukin (IL) 6 IL6 I Interleukin (IL) 6 receptor IL6R I Interleukin (IL) 7 IL7 I Interleukin (IL) 7 receptor IL7R I <BR> <BR> Interleukin (IL) 8 IL8 I Interleukin (IL) 8 receptor IL8R I Interleukin (IL) 9 IL9 I Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1RN, IL1RA I KAK3IKallikrein3 GKinectinKTN1 Kinesin, heavy chain KNSL1 G Kinesin, KNS2Gchain Kininogen, High molecular weight KNG I Leptin LEP G Leptin receptor LEPR G Leukotriene A4 hydrolase Leukotriene B4 I <BR> <BR> Leukotriene C4 receptor ! Leukotriene D4/E4 I LH/choriogonadotropin (CG) receptor LHCGR G LIM homeobox transcription factor 1, beta LMX1 B G Lipoprotein lipase LPL I Lipoprotein receptor, Low Density LDLR T <BR> <BR> Lipoxygenase 12 (platelets) LOG12 I Lipoxygenase 5 (leukocytes) I Low density lipoprotein receptor-related protein LRP T precursor Lysosomal acid lipase LIPA E Malonyl CoA decarboxylase E Malonyl CoA transferase E <BR> <BR> Maltase-glucoamylase E Mannose binding protein MBP I Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-MGAT2 T N-acetylglucosaminyltransferase MAPK kinase 1 MAPKK1; MEK1 G MAPK kinase 4 MAPKK4; MEK4; G SERK1 MAPK kinase 6 MAPKK6; MEK6 G MAPKKkinase MAPKKK G <BR> <BR> <BR> MatrixGla protein MGP G MEK kinase, MEKK E Melanocortin 2 receptor MC2R T Melanocortin 4 receptor MC4R T Methionine adenosyltransferase MAT1A, MAT2A E Methionine synthase MTR E Methionine synthase reductase MTRR E Methylguanine-DNA methyltransferase MGMT E Mevalonate kinase MVK E MHC Class I: Tap1 ABCR, TAP1 I MHC Class lI: Tap2 TAP2, PSF2 I Microphthalmia-associated transcription factor MITF G Mismatch repair gene, PMSL1 PMS1 G Mismatch repair gene, PMSL2 PMS2 G Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta subunit HADHB E Mitogen-activated protein (MAP) kinase MAPK G Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Multidrug resistance associated protein MRP G Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Na+, K+ ATPase, alpha ATP1A1 G Na+, K+ ATPase, beta 1 ATP1 B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ exchanger 1 NHE1 T Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T N-acetylgalactosamine-6-sulfate sulfatase GALNS E <BR> <BR> N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E N-acetyltransferase 1 NAT1 E N-acetyltransferase 2 NAT2 E <BR> <BR> N-acyl hydrolase I NADH dehydrogenase (ubiquinone) NDUFV1 E flavoprotein 1 NADH-cytochrome b5 reductase DIA1 E <BR> <BR> NADPH-dependent cytochrome P450 POR E reductase <BR> <BR> <BR> Nephrolithiasis 2 NPHL2 T Nephronophthisis 2 NPHP2 T Nephrosis 1 NPHS1 T Neuroendocrine convertase 1 NEC 1, PCSK1 E Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Niacin receptor G Niemann-Pick disease protein NPC1 T Nuclear factor kappa beta NFKB I Nuclear factor of activated T cells (NFAT) NFATC G complex, cytosolic Nuclear factor of activated T cells (NFAT) NFATP G complex, preexisting component <BR> <BR> Nucleoside diphosphate kinase-A NDPKA E Oncogene spi1 G Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N Ornithine transcarbamoylase OTC, NME1 E Osteoprotegerin OPG G Otoferlin OTOF N Oxytocin OXT N Oxytocin receptor OXTR N Paired-like homeodomain transcription factor 2 PITX2 G Paired-like homeodomain transcription factor 3 PITX3 G Paraoxonase PON1 PON1 E Paraoxonase PON2 PON2 E Paraoxonase PON3 E Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G Parvalbumin PVALB G PCNA (proliferating cell nuclear antigen) E Peanut-like 1 PNUTL1 I Peroxisomal membrane protein 1 PXMP1 S Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome proliferative activated receptor, PPARA T alpha Peroxisome proiiferative activated receptor, PPARG T gamma P-glycoprotein 1 PGY1 T P-glycoprotein 3 PGY3 T Phenylethanolamine N-methyltransferase, PNMT E PNMT Phosphodiesterase 1/nucleotide PDNP1 G pyrophosphatase 1 Phosphodiesterase 1/nucleotide PDNP2 G pyrophosphatase 2 Phosphodiesterase 1/nucleotide PDNP3 G pyrophosphatase 3 Phospholipase A2, group 10 PLA2G10 I Phospholipase A2, group 1 B PLA2G1 B I Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Phosphomannomutase-2 PMM2 T Phosphomannose isomerase-1, PM11 MPI T Phosphoribosyl pyrophosphate synthetase PRPS1 E Pituitary adenylate cyclase activating peptide PACAP N Pituitary adenylate cyclase activating peptide PACAP1 R N receptor Plasminogen activator, Tissue PLAT; TPA E Platelet-activating factor receptor PAFR I Plectin 1 PLEC1 T Polycystin 1 PKD1 T Polycystin 2 PKD2 T Porphobilinogen deaminase HMBS E Potassium channel, calcium-activated, KCNN4 N Potassium channel, subfamily K, member 1 KCNK1 N Potassium channel, subfamily K, member 2 KCNK2 N Potassium channel, subfamily K, member 3 KCNK3 N Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N POU domain, class 1, transcription factor 1 POU1F1 G (Pit1) POU domain, class 3, transcription factor 4 POU3F4 G POU domain, class 4, transcription factor 3 POU4F3 G Pre-B-cell leukemia transcription factor 1 PBX1 G Preproglucagon GCG; GLP1; GLP2 G Progesterone receptor (RU486 binding PGR G receptor) Prolactin PRL G Proiactin receptor PRLR G Proopiomelanocortin POMC N Prostacyclin synthase I Prostaglandin 15-OH dehydrogenase HGPD; PGDH I <BR> <BR> Prostaglandin D-DP receptor I<BR> <BR> <BR> <BR> Prostaglandin E1 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E2 receptor I<BR> <BR> <BR> <BR> Prostaglandin E3 receptor I Prostagiandin F-FP receptor <BR> <BR> Prostaglandin F2 alpha receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin IP receptor I Prostaglandin-endoperoxidase synthase 2 PTGS2 G Protease nexin 2 PN2 E Protein C PROC I Protein kinase DNA-activated PRKDC E Protein S PROS1 I Pterin-4-alpha-carbinolamine PCBD Purine nucleoside phosphorylase NP E Purinergic receptor P1A1 N Purinergic receptor P1 A2 N Purinergic receptor N <BR> <BR> PurinergicreceptorP2X, 1 P2RX1 N Purinergic receptor P2X, 2 P2RX2 N Purinergic receptor P2X, 3 P2RX3 N Purinergic receptor P2X, 4 P2RX4 N <BR> <BR> Purinergic receptor P2X, 5 P2RX5 N Purinergic receptor P2X, 6 P2RX6 N Purinergic receptor P2X, 7 P2RX7 N <BR> <BR> PurinergicreceptorP2Y, 1 P2RY1 N Purinergic receptorP2Y, 11 P2RY11 N Purinergic receptor P2Y, 2 P2RY2 N RAD51, DNA repair protein RAD51 G RAD52, DNA repair protein RAD52 G RAD54, DNA repair protein RAD54 G RAD55, DNA repair protein RAD55 G RAD57, DNA repair protein RAD57 G Recombination activating gene 1 RAG1 G Recombination activating gene 2 RAG2 G Red cone pigment RCP S Replication factor A E Replicationfactor C RFC2 E Retinaldehyde binding protein 1 RLBP1 T Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G Retinoic acid receptor, gamma RARG G Retinoid X receptor, alpha RXRA G Retinoid X receptor, beta RXRB G Retinoid X receptor, gamma RXRG G Retinol binding protein 1 T Retinol binding protein 2 T Retinol binding protein 4 RBP4 T Ribonucleotide reductase, RRM E Ribosephosphate pyrophosphokinase E Ribosomal protein L13A RPL13A G Ribosomal protein S19 RPS19 E Ribosomal protein S4, X-linked RPS4X E Ribosomal protein S6 kinase RPS6KA3 E Ribosomal protein S9 RPS9 G S-adenosylmethionine decarboxylase, AMD E Secretin SCT T Secretin receptor, SCTR SCTR T Serine hydroxymethyltransferase SHMT E Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptr, NHTR1B Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1E HTR1E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Slug protein G Small nuclear ribonucleoprotein polypeptide N SNRPN S Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage gated, type IV, alpha SCN4A N polypeptide Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1 B N polypeptide Solute carrier family 1 (amino acid transporter), SLC1A6 T member 6 Solute carrier family 1 (glial high affinity SLC1A3 T glutamate transporter), member 3 Solute carrier family 1 (glutamatetransporter), SLC1A1 T member 1 Solutecarrierfamily1 (glutamatetransporter), SLC1A2 T member 2 Solute carrier family 1 (neutral amino acid SLC1A4 T transporter), member 4 Solute carrier family 10 (sodium/bile acid SLC10A1 T cotransporter family), member 1 Solute carrier family 10 (sodium/bile acid SLC10A2 T cotransporter family), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solutecarrierfamily12, member3 SLC12A3 T Solute carrier family 14, member 2 SLC14A2 T Solute carrier family 15 (H+/peptide SLC15A1 T transporter, intestinal), member 1 Solute carrier family 15 (H+/peptide SLC15A2 T transporter, kidney), member 2 Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 17, member 1 SLC17A1 T Solute carrier family 17, member 2 SLC17A2 T Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 19 (folate transporter), SLC19A1 T member 1 Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 2 (facilitated glucose SLC2A2 T transporter), member 2 Solute carrier family 2 (facilitated glucose SLC2A3 T transporter), member 3 Solute carrier family 2 (facilitated glucose SLC2A4 T transporter), member 4 Solute carrier family 2 (facilitated glucose SLC2A5 T transporter), member 5 Solute carrier family 20, member 1 SLC20A1 T Solute carrier family 20, member 2 SLC20A2 T Solute carrier family 20, member 3 SLC20A3 T Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21A3 T Solute carrier family 22, member 1 SLC22A1 T Solute carrier family 22, member 2 SLC22A2 T Solute carrier family 22, member 5 SLC22A5 T Solute carrier family 25, member 12 SLC25A12 T Solute carrier family 3 (facilitated glucose SLC3A1 T transporter), member 1 Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 6, member 10 SLC6A10 T Solute carrier family 6, member 6 SLC6A6 T Solute carrier family 6, member 8 SLC6A8 T Solute carrier family 7 (amino acid transporter), SLC7A1 T member 1 Solute carrier family 7 (amino acid transporter), SLC7A2 T member 2 Solute carrier family 7 (amino acid transporter), SLC7A7 T member 7 Solute carrier family 8 (sodium/calcium SLC8A1 T exchanger), member 1 Somatostatin SST N Somatostatin receptor, SSTR1 SSTR1 N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N Sorcin SRI T <BR> <BR> <BR> SOS1 guanine nucleotide exchange factor SOS1 G Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Steroid hormone receptor responsive DNA G elements Sterol carrier protein 2 SCP2 T Succinic semi-aldehyde dehydrogenase ssadh E Sucrase E Sulfonylurea receptor SUR G Synaptic vesicle amine transporter SVAT N Tachykinin receptor, NK1 R TACR1 N Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N Terminal deoxynucleotidyltransferase TDT I Thiopurine S-methyltransferase TPMT E Thrombopoietin THPO G Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 I <BR> <BR> <BR> Thromboxane A2 receptor TBXA2R I Thymidylate synthase TYMS E Thymopoietin TMPO G Thyroid hormone receptor, beta THRB G Thyroid-stimulating hormone receptor TSHR G Thyroid-stimulating hormone, alpha TSHA G Thyroid-stimulating hormone, beta TSHB G Topoisomerase I E Topoisomerase II E Transcription factor 1, hepatic TCF1 G Transcription factor 2, hepatic TCF2 G Transcription factor 3 TCF3 G Transcription factor binding to IGHM enhancer TFE3 G 3 Transcription factor, TUPLE1 TUPLE1 N Transcription termination factor, RNA TTF1 G poiymerase 1 Transcription termination factor, RNA TTF2 G polymerase 2 Transcription termination factor, RNA TTF3 G polymerase 3 Transferrin TF G Transferrin receptor TFRC G Transthyretin TTRT Tubulin S <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF1 ! associated factor 1 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF2 t associated factor 2 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF3 ! associated factor 3 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF4 ! associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 I associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 I associated factor 6 Tumour necrosis factor alpha TNFA I Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tumour suppresssor gene DRA DRA I Ubiquitin G Ubiquitin activating enzyme, E1 E Ubiquitin B UBB G Ubiquitin C UBC G Ubiquitin carboxyl-terminal esterase L1 UCHL1 G Ubiquitin protein ligase E3A UBE3A E UDP-glucose pyrophosphorylase E UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Uncoupling protein 1 T Uncoupling protein 3 UCP3 T Uridine monophosphate kinase UMPK I Uridine monophosphate synthetase UMPS I <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Vimentin VIM I Vitamin B12-binding (R) protein G Vitamin D receptor VDR G Xanthine dehydrogenase XDH E Xeroderma pigmentosum, complementation XPA E group A Xeroderma pigmentosum, complementation XPB E group B Xeroderma pigmentosum, complementation XPC E group C Xeroderma pigmentosum, complementation E group D Xeroderma pigmentosum, complementation E group E Xeroderma pigmentosum, complementation XPF E group F Xeroderma pigmentosum, complementation ERCC5 E group G X-ray repair gene XRCC9 G Xylitol dehydrogenase E YY1 transcription factor YY1 G In a second aspect.

ONCOLOGY The invention relates to a method of assessing the consequences, complications and the many symptoms arising as a result of developing a cancer.

Despite the fact that there are several hundred types of cancer, it is still possible to list certain general characteristics. Cancer is a cellular disorder in which cells lack the ability to grow in a controlled and organised manner. A cancer cell divides to form a growth, or tumour, that invades and destroys neighbouring healthy tissue. Tumour cells may metastasise, i. e. detach from the tumour and spread to several sites around the body. After travelling through the blood or lymph system, cancer cells are able to start proliferating to produce new tumours elsewhere. Cancers often reoccur after attempted removal of the primary tumour via this process. Malignant cancers, i. e. ones that metastasise, generally cause death of the patient, unless adequately treated.

Cancer is a common disease, being the second largest cause of death after vascular disorders. Approximately 20 percent of the population of the United Kingdom will die of cancer. The most common cancers are lung, colon, breast and prostrate cancers (Weatherall, Ledingham and Warrell, 1996).

The characteristic symptoms and signs of cancer are due to the local effects of the cancer tumour infiltrating surrounding healthy tissues and causing pressure and distortion of neighbouring structures. In addition to these local site-specific symptoms, tumours produce symptoms that are, to some extent common to all cancers. These include; * Pain.

Weight loss.

* Tumour mass.

* Fever.

* Anaemia.

* Hypercalcaemia.

Such symptoms lead to difficulties in the clinical care of patients, difficulties in the treatment and recovery of patients and lead to stress and anxiety in their carers and families.

Causes of Cancer: The causes of and molecular pathologies occurring in the processes leading to cancer are numerous and complicated. Identifying the molecular basis of cell transformation, i. e. the genetic changes that cause a normal cell or group of cells to lose sensitivity to the normal restraints on multiplication and thus become a tumour, has been the central issue of cancer research.

A key focus has been the mechanisms by which the loss of sensitivity to constraints on multiplication becomes a heritable and, most importantly, stable characteristic of cells and their daughter cells. Thus ensuring the development of a tumour which can continue to grow without responding to the increased cellular density and with'no respect for the integrity of cellular architecture' (Harris 1996).

Two areas of research in the early 1980s resulted in a great step forward on the way to this objective. These were the studies of oncogenic retroviruses and of polypeptide growth factors. The simple genomes of type C retroviruses facilitated research into their mechanisms of transformation. It was found that oncogenic variants contained additional nucleic acid sequences very similar to expressed genes in mammalian cells.

It rapidly became clear that these were acquired by recombination from host DNA and that their presence in the virus and their expression following infection were critical for transformation. This work on viral transformation thus identified a class of genes, now called oncogenes, present in human DNA and with the potential to transform cells when activated.

A second class of genes, tumour suppressor genes, has been identified with a different mode of action. Here inactivation of a normally active gene leads to tumour formation. Many cancers of this type have a homozygous recessive mechanism of inheritance (e. g. Wilms tumour, neurofibromatosis, familial adenomatous polyposis coli). As a result of these studies it is now appreciated that the genetic mechanism leading to tumour formation are complex and that several genetic steps might have to occur before transformation to a malignant cell phenotype is complete (Weatherall, Ledingham and Warrell, 1996).

In addition several environmental factors have a well documented carcinogenic potential such as ionizing radiation (e. g. X rays, sunshine), drugs (e. g. steroids, oestregens, cyclosporin) and chemicals used in industry and manufacturing (e. g. aromatic amines, polycyclic hydrocarbons, vinyl chloride).

Treatment of Cancer : The unrestricted growth of a tumour causes damage to healthy tissues by occupying space (resulting in physical stresses to surrounding tissues) competing for oxygen and nutrients. From a healthcare management point of view, the most important clinical property of a tumour is its rate of growth and ability to generate secondary deposits of growth at distant sites in the body (metastasise). There is evidence that both of these factors can be related to the nature of the genetic changes within the cell and the degree of dedifferentiation expressed by the cell.

Management of cancer often involves more than one type of treatment and includes: Surgery * Chemotherapy * Radiotherapy Local treatment frequently involves both surgery and radiotherapy in order to maximise the chances of local control.

The aim of surgical intervention is to completely excise the tumour with a margin of normal tissue around the main tumour mass. The risk of local reoccurrence is very high with a marginal excision. The aim of radiotherapy is to target the tumour mass accurately and deliver a high dose of radiation to that area in order to destroy all the tumour cells. Radiotherapy is of course toxic to normal tissue as well as malignant tissue which accounts for the side effects associated with the treatment.

Most tumours, for example breast tumours, present with locally advanced or metastatic disease, make local approaches such as surgery or radiotherapy unlikely to result in cure or long term remission. The role of these treatments therefore is primarily to prevent local reoccurrence rather than to be curative.

A growing trunber of cancer types respond to treatment with combination suchaslymphomasandleukaemiasareverysensitivetochemotherapy.T umours <BR> <BR> anti-cancer drugs such as vincristine or cisplatin and rernission of some of tlTese cancers have been achieved in this fvay. There has been less success with the <BR> <BR> common solid tumours, such as lung, breast or colorectal cancer (Brody, Larner<BR> <BR> <BR> <BR> and Minllermall, 1998).

One of the difficulties in the clinical management of tumours is the cytotoxicity of many of the therapeutic agents. Severe side effects are not uncommon and include cardiac toxicity, renal impairment, pulmonary fibrosis and bone marrow suppression (British National Formulary 1998).

Further management problems arise from the specific complications which accompany the spread of metastases including spinal cord compression, carcinomatous'meningitis', cerebral involvement, liver failure, pleural effusions, pericardial effusions and pain.

There is considerable variation in the rates of growth of the various tumours and cancers and in their propensity to metastasise. The factors are known to relate to the morphology and physiology of the original cell type and the genetic changes occurring within the transformed cell. The rates of tumour progression also vary from individual to individual and the precise factors which lie behind such individual variation are uncertain. To complicate matters there is also considerable individual variation in the degree of toleration to the cytotoxic side effects of commonly used drugs and in the outcome of therapeutic interventions such as recovery from surgery, development of secondary infections and efficacy of pain management.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below : KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION ONCOLOGY GENE LIST HUGO gene Protein symbol function Absent in melanoma 1 gene AIM1 G Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Activin G Activin A receptor, type 2B ACVR2B G Activin A receptor, type 2-like kinase 1 ACVRL1 G Adenomatous polyposis coli tumour supressor APC G gene Adenosine deaminase ADA E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenyl cyclase N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T <BR> <BR> Alcohol dehydrogenase 3 ADH3 E<BR> <BR> <BR> <BR> <BR> Aldehydedehydrogenase 1 ALDH1 E Aldehyde dehydrogenase 10 ALDH10 E Aldehyde dehydrogenase 2 ALDH2 E Aldehyde dehydrogenase 5 ALDH5 E <BR> <BR> Aldehydedehydrogenase 6 ALDH6 E Aldehyde dehydrogenase 7 ALDH7 E Aldosterone receptor MLR G <BR> <BR> alpha tectorin TECTA G alpha1-antitrypsin Pl E alpha-actinin 2 ACTN2 G alpha-actinin 3 ACTN3 G Alpha-fetoprotein AFP G alpha-synuclein SNCA N Amphiregulin AREG G Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Androgen receptor AR G Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Annexin 1 ANX 1 Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E AP-2, alpha TFAP2A G AP-2, beta TFAP2B G AP-2, gamma TFAP2C G Apaf-1S Apoptosis antigen 1 APT1 I Apoptosis antigen ligand 1 APT1LG1 Apoptosis-inducing factor AIF I <BR> <BR> Apurinic endonuclease APE E Arginine vasopressin AVP N Arginosuccinate synthetase ASS E <BR> <BR> Aryl hydrocarbon receptor AHR T<BR> <BR> <BR> <BR> Aryl hydrocarbon receptor nuclear translocator ARNT T Asparagine synthetase AS E Aspartate receptor N Ataxia telangiectasia complementation group D ATD, ATDC G Ataxia telangiectasia gene, AT ATM G ATP cobalamin adenoxyltransferase E ATP sulphurylase atpsk2 E ATP-binding cassette transporter 7 ABC7 I Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Atrophin 1 DRPLA G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G <BR> <BR> B-cell CLL/lymphoma 1 BCL1<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 10 BCL10<BR> <BR> <BR> <BR> B-cell CLL/lymphoma 3 BCL3<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 4 BCL4<BR> <BR> <BR> <BR> B-cell CLL/lymphoma 5 BCL5<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 6 BCL6 B-cel CLL/lymphoma IBCL7 <BR> <BR> B-cell CLL/lymphoma 8 BCL8 I<BR> <BR> <BR> <BR> B-cell CLL/lymphoma 9 BCL9 I BCL2-associated X protein BAX G BCL2-related protein A1 BCL2A1 G Beckwith-Wiedemann region 1A BWR1A G Benzodiazepine receptor N <BR> <BR> beta 2 microglobulin B2M I beta-endorphin receptor N beta-synuclein SNCB N Bleomycin hydrolase BLMH E Bone morphogenetic protein, BMP1 BMP1 G Bone morphogenetic protein, BMP2 BMP2 G Bone morphogenetic protein, BMP3 BMP3 G Bone morphogenetic protein, BMP4 BMP4 G Bone morphogenetic protein, BMP5 BMP5 G Bone morphogenetic protein, BMP6 BMP6 G Bone morphogenetic protein, BMP7 BMP7 G Bone morphogenetic protein, BMP8 BMP8 G Bradyklnin receptor I Bradykinin receptor B2 I Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor Branched chain aminotransferase 1, cytosolic BCAT1 E Branched chain aminotransferase 2, BCAT2 E mitochondrial BRCA1-associated RING domain gene 1 BARD1 G Breakpoint cluster region BCR G Breast cancer 1 BRCA1 G Breast cancer 2 BRCA2 G Breast cancer, ductal, 1 BRCD1 G Breast cancer, ductal, 2 BRCD2 G Bruton agammaglobulinaemia tyrosine kinase BTK G C1 inhibitor E Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G Caicitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1 S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G Calnexin CANX G Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Cardiac-specific homeobox, CSX CSX G Cartilage-hair hypoplasia gene CHH N Caspase 1 CASP1 G Caspase 10 CASP10 G Caspase 2 CASP2 G Caspase 3 CASP3 G Caspase 4 CASP4 G Caspase 5 CASP5 G Caspase 6 CASP6 G<BR> <BR> <BR> <BR> Caspase 7 CASP7 G Caspase 8 CASP8 G <BR> <BR> Caspase 9 CASP9 G Catenin, beta CTNNB1 G <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> <BR> CD10 CD10 I<BR> <BR> <BR> <BR> CD4 CD4 I CEA G Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-endothelial, LECAM1 G LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G <BR> <BR> c-erbB1 ERBB1 G c-erbB2 ERBB2 G c-erbB3 ERBB3 G c-erbB4 ERBB4 G <BR> <BR> <BR> Ceruloplasmin precursor CP E Chemokine receptor CXCR1 CXCR1 I Chemokine receptor CXCR2 CXCR2 I Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Ciliary neurotrophic factor (CNTF) CNTF G Ciliary neurotrophic factor (CNTF) receptor CNTFR G c-kit receptor tyrosine kinase G Clathrin T Clusterin CLU G Collage IV alpha 4 COL4A4 S Collagen IV alpha 5 COL4A5 S <BR> <BR> Collagen IValpha 6 COL4A6 S<BR> <BR> <BR> <BR> <BR> Colony-stimulating factor 1 CSF1 G Colony-stimulating factor 1 receptor CSF1 R G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G 2betareceptorCSF2RBGColony-stimulatingfactor Colony-stimulating factor 3 CSF3 G Colony-stimulating factor 3 receptor CSF3R G <BR> <BR> ComplementcomponentC1 inhibitor C1NH Complement component C1 qa C1 QA I Complement component C1 qb C1 QB I Complement component C1 qg C1 QG I Complement component C1 r C1 R Complement component C1sC1S Complement component C2C2 Complement component C3C3 <BR> <BR> ComptementcomponentC4AC4A Complement component C4BC4B Complement component C5 C5 Complement component C6 C6 Complement component C7 C7 Complement component C8 C8B Complement component C9 C9 Comptex III alpha1CBFA1GCore-bindingfactor, Core-binding factor, alpha 2 CBFA2 G Core-binding factor, beta CBFB G Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T c-src tyrosine kinase CSK G Cyclic AMP-dependent protein kinase PKA E Cyclin A CCNA G Cyclin B CCNB G Cyclin C CCNC G Cyclin D CCND1 G Cyclin E CCNE G Cyclin F CCNF G Cyclin-dependent kinase 1 CDK1 G Cyclin-dependent kinase 10 CDK10 G Cyclin-dependent kinase 2 CDK2 G Cyclin-dependent kinase 3 CDK3 G Cyclin-dependent kinase 4 CDK4 G Cyclin-dependent kinase 5 CDK5 G Cyclin-dependent kinase 6 CDK6 G Cyclin-dependent kinase 7 CDK7 G Cyclin-dependent kinase 8 CDK8 G Cyclin-dependent kinase 9 CDK9 G Cyclin-dependent kinase inhibitor 1A (P21, CDKN1A G CIP1) Cyclin-dependent kinase inhibitor 1B (P27, CDKN1B G KIP1) Cyclin-dependent kinase inhibitor 1C (P57, CDKn1C G KIP2) Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G Cyclin-dependent kinase inhibitor 3 CDKN3 G Cyclooxygenase ECOX1 Cyclooxygenase 2 COX2 E CYP11A1 CYP11A1 E CYP11B1 CYP11B1 E CYP11 B2 CYP11 B2 E CYP17 CYP17 E CYP19 CYP19 E ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E<BR> <BR> <BR> <BR> CYP1B1 CYP1B1 E CYP21 CYP21 E CYP24 CYP24 E <BR> <BR> CYP27CYP27E<BR> <BR> <BR> <BR> CYP27B1PDDRE<BR> <BR> <BR> <BR> <BR> CYP2A1CYP2A1E<BR> <BR> <BR> <BR> CYP2A13CYP2A13E<BR> <BR> <BR> <BR> <BR> CYP2A3CYP2A3E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 <BR> <BR> CYP2C19CYP2C19E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1CYP2E1E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 I binding protein 1 Cytokine-suppressive antiinflammatorydrug-CSBP2 binding protein 2 Defender against cell death 1 DAD1 G Deleted in colorectal carcinoma DCC G Deieted in malignant brain tumours 1 DMBT1 G Deoxycytidine kinase DCK E Deoxyuridine triphosphatase; dUTPase E Desert hedgehog, dhh G Dihydrofolate reductase DHFR E Dihydrolipoyldehydrogenase E Dihyropyrimidinedehydrogenase DPYD E DM-Kinase DMPK E DNA damage binding protein, DDB1 DDB1 S DNA damage binding protein, DDB2 DDB2 S <BR> <BR> DNA directed polymerase, alpha POLA E DNA glycosylases E DNAhelicases E DNA Ligase 1 LIG1 E DNA methyltransferase DNMT E DNA polymerase 1 E DNA polymerase 2 E DNA polymerase 3 E DNAprimase E DNA-damage-inducible transcript 3 DDIT3 S DNA-dependant RNA polymerase E DOPA decarboxylase DDC E Dopamine receptors DI DRDI N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N <BR> <BR> Dynamin DNM1 G Dynorphin receptor N Dysferlin DYS, DYSF E <BR> <BR> Dyskerin DKC1 S EB1 G <BR> <BR> <BR> Endoglin ENG S Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G <BR> <BR> Epidermal growth factor receptor EGFR G Estrogen receptor ESR G Eukaryotic initiation translation factor EIF4E G EWS RNA-binding protein EWSR1 G Excision repair complementation group 1 ERCC1 E protein Excision repair complementation group 2 ERCC2 E protein Excision repair complementation group 2 ERCC3 E protein Excision repair complementation group 4 ERCC4 E protein Excision repair complementation group 6 ERCC6 E protein Exostosin 1 EXT1 S Exostosin 2 EXT2 S FADHdehydrogenase E Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fc fragment of IgG, high affinity IA, receptor for FCGR1A G Fc fragment of IgG, low affinity Ila, receptor for FCGR2A G (CD32) Fc fragment of IgG, low affinity Illa, receptor for FCGR3A G (CD16) Ferrochelatase FECH E Fibrillin 1 FBN1 G Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Folic acid receptor FOLR G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Follicular lymphoma variant translocation 1 FVT1 Forkhead rhabdomyosarcoma gene FKHR G Forkhead transcription factor 14 FKHL14 G Forkhead transcription factor 7 FKHL7 G Fucosyltransferase 2 FUT2 T Fucosyltransferase 3 FUT3 T G/T mismatch binding protein GTBP, MSH6 G GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N Gadd45 (growth arrest & DNA-damage-inducible protein) E Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1,3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Gastrin GAS G Gastrin releasing peptide GRP T Glioma chloride ion channel, GCC G Glucagon receptor GCGR G Glucagon synthase T Glucocorticoid receptor GRL G Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N <BR> <BR> Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutathione GSH T Glutathione S-transferase mu 1, GSTM1 GSTM1 E Glutathione S-transferase theta 1, GSTT1 GSTT1 E Glutathione S-transferase, GSTZ1 GSTZ1 E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine receptor, alpha GLRA2 N Glycine receptor, beta N Glycine transporter GLYT N Glypican 3 GPC3, SDYS G Gonadotropin releasing hormone GNRH G Gonadotropin releasing hormone receptor GNRHR G Growth factor receptor-bound protein 2 GRB2 G Growth hormone 1 GH1 G Growth hormone 2 (placental) GH2 G Growth hormone receptor GHR G Growth hormone releasing hormone (GHRH) GHRH G Growth hormone releasing hormone receptor GHRHR G Growth/differentiation factor 5 GDF5 G Growth-regulated protein precursor, GRO GRO I GTPase-activating protein, GAP RASA1 G Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNA) 1 Guanine nucleotide-binding protein, alpha GNAI2 N inhibiting activity polypeptide 2, GNA12 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanylate kinase E H (+), K (+)-ATPase ATP4B N Hairless HR G Hela tumor suppression gene HTS1 G Heparin binding epidermal growth factor HBEGF G Hepatitis B virus integration site 1 HVBS1 I Hepatitis B virus integration site 2 HVBS6 I High mobility group protein C HMGIC G High mobility group protein Y HMGIY G Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N HLH transcription factor HAND1 HAND1 G HLH transcription factor HAND2 HAND2 G HMG-CoA reductase HMGCR E HMG-CoA synthase HMGCS2 E Homeobox (HOX) gene A13 HOXA13 G Homeobox 11 HOX11 G Homeobox HB24 HLX1 G Homogentisate 1, 2 dioxygenase HGD E Hormone-sensitive lipase HSL E HSSB, replication protein E Human placenta lactogen CSH1 G Ibonucleoside diphosphate reductase E Ikaros gene IKAROS G Inhibin, alpha INHA G Inhibin, beta A INHBA G Inhibin, beta B INHBB G Inhibin, beta C INHBC G Inositol 1,4,5-triphosphate receptor 3 ITPR3 G Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G Integrin beta 5 ITGB5 G Integrin beta 6 ITGB6 G Integrin beta 7 ITGB7 G Integrin, alpha 1 ITGA1 G Integrin, alpha 2 ITGA2 G 4ITGA4GIntegrin,alpha 5ITGA5GIntegrin,alpha Integrin, alpha 6 ITGA6 G Integrin, alpha M ITGAM G Interferon IIFNA1 Interferon IIFNB Interferon gamma IFNG I Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I interferon regulatory factor 1 IRF1 I Interferon 4IRF4Ifactor receptorIL1RIInterleukin(IL)1 alphaIL1AIInterleukin(IL)1, Interleukin (IL) 1, beta IL1B I Interleukin (IL) 10 IL10 receptorIL10RIInterleukin(IL)10 IL11IInterleukin(IL)11 Interleukin (IL) 11 receptor IL11R IL12IInterleukin(IL)12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 receptorIL13RIInterleukin(IL)13 IL2IInterleukin(IL)2 alphaIL2RAIInterleukin(IL)receptor, Interieukin (iL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 receptorIL3RIInterleukin(IL)3 IL4IInterleukin(IL)4 Interleukin (IL) 4 receptor IL4R I Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 receptorIL6RIInterleukin(IL)6 IL7IInterleukin(IL)7 receptorIL7RIInterleukin(IL)7 IL8IInterleukin(IL)8 Interieukin (IL) 8 receptor IL8R I Interleukin (IL) 9 IL9 I Interieukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I Janus kinase 1 JAK1 G Janus kinase 2 JAK2 G Janus kinase 3 JAK3 G Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor1 LAMR1 G Latent transforming growth factor-beta binding LTBP2 G protein 2 Leptin LEP G Leptin receptor LEPR G Leukaemia inhibitory factor LIF G Leukaemia inhibitory factor receptor LIFR G Leukotriene A4 hydrolase Leukotriene B4 receptor I Leukotriene C4 receptor I Leukotriene D4/E4 receptor I LH/choriogonadotropin (CG) receptor LHCGR G LIM homeobox protein 1 LHX1 G LIM homeobox protein 2 LHX2 G LIM homeobox protein 3 LHX3 G LIM homeobox protein 4 LHX4 G Limbic associated membrane protein LAMP G protein1LMO1GLIM-domainonly protein2LMO2GLIM-domainonly protein3LMO3GLIM-domainonly protein4LMO4GLIM-domainonly Lipoma-preferred partner gene LPP G Lipoxygenase 12 ILOG12 Lipoxygenase 5 (leukocytes) I Long QT-type 2 potassium channels LQT2, KCNH2 T Lowe oculocerbrorenal syndrome gene OCRL E Luteinizing hormone-releasing hormone N Luteinizing hormone-releasing hormone N receptor Lymphoblastic leukemia derived sequence 1 LYL1 Lymphocyte-specific protein tyrosine kinase LCK I Lymphoid enhancer-binding factor LEF-1 G Macrophage activating IMAF MAD (mothers against decapentaplegic, MADH3 G Drosophila) homologue 3 MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 MADS box transcription-enhancer factor 2A MEF2A G MADS box transcription-enhancer factor 2B MEF2B G MADS box transcription-enhancer factor 2C MEF2C G MADS box transcription-enhancer factor 2D MEF2D G Malignant proliferation, eosinophil gene MPE I MAPK kinase 1 MAPKK1; MEK1 G MAPK kinase 4 MAPKK4; MEK4; G SERK1 MAPK kinase 6 MAPKK6; MEK6 G MAPKK kinase MAPKKK G MAX-interacting protein 1! 1 G MEK kinase, MEKK E Melanocortin 1 receptor MC1 R T Menin MEN1 G MAT1A,MAT2AEMethionineadenosyltransferase Methionine synthase MTR E Methionine synthase reductase MTRR E Methylguanine-DNA methyltransferase MGMT E MHC Class IA MHC Class B MHC Class IC MHC Class I : LMP-2, LMP-7 I MHC Class I: Tap1 ABCR, TAP1 I MHC Class ll: DP HLA-DPB1 I MHC Class li: DQ I MHC Class il: DR I MHC Class II: Tap2 TAP2, PSF2 I MHC Class lI : Complementation group A MHC2TA I MHC Class lI: Complementation group B rfxank I MHC Class lI: Complementation group C RFX5 I MHC Class lI : Complementation group D RFXAP I Midline 1 MID1 G Mismatch repair gene, PMSL1 PMS1 G Mismatch repair gene, PMSL2 PMS2 G Mitogen-activated protein (MAP) kinase MAPK G Motilin MLN G Msh homeobox homolog 1 MSX1 G Msh homeobox homolog 2 MSX2 G Mucin 18 MUC18 T Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Mutated in colorectal cancers, MCC MCC G MutL homolog 1 MLH1 G MutS homolog 2 MSH2 G MutS homolog 3 MSH3 G Mye ! in protein peripheral 22 PMP22 S Myelodysplasia syndrome 1 gene MDS1 G <BR> <BR> Myeloid leukemia factor-1 MLF1 I N-acetyltransferase 1 NAT1 E <BR> <BR> N-acetyltransferase 2 NAT2 E<BR> <BR> <BR> <BR> NADPH-dependentcytochromeP450POPE reductase Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neuregulin HGL G <BR> <BR> NeurexinN Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurokinin A NKNA N Neurokinin B NKNB N Neuronal apoptosis inhibitory protein NAIP I Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Neurotrophic tyrosine kinase receptor 1 NTRK1 G Neutral endopeptidase E Niacin receptor G <BR> <BR> Nodal NODAL G Norrie disease protein NDP G Notch 3 NOTCH3 G Notch ligand - jagged 1 JAG1, AGS G Nuclear factor kappa beta NFKB I Nuclear factor of activated T cells (NFAT) NFATC G complex, cytosolic Nuclear factor of activated T cells (NFAT) NFATP G complex, preexisting component Nuclear mitotic apparatus protein 1 NUMA1 G Nucleophosmin NPM1 T Oligophrenin-1 G Oncogene abl1 ABL1 G Oncogene abl2 G Oncogene G Oncogene akt2 AKT2 G Oncogene GAXL Oncogene bcl2 G Oncogene bcr/abl G Oncogene B-lym G Oncogene B-raf G Oncogene clk1 G Oncogene c-myc G Oncogene cot G Oncogene crk G Oncogene G Oncogene ect2 G Oncogene ELK1 ELK1 G Oncogene ELK2 ELK2 G Oncogene G Oncogene ERB G Oncogene ERB2 G Oncogene ERBA G Oncogene ERBAL2 G Oncogene ERG (early reponse gene) G Oncogene ETS1 G Oncogene G Oncogene GEVI1 Oncogene fes G Oncogene fgr G Oncogene fos FOS G Oncogene fps G Oncogene GLUI1 Oncogene GL12 GL12 G Oncogene GGLI3 Oncogene gro1G Oncogene gro2 G Oncogene GHRAS Oncogene hs1 G Oncogene hst FGF4 G Oncogene int1 WNT1 G Oncogene int2 FGF3 G Oncogene int3 Notch4 G Oncogene int4 WNT3 G Oncogene jun JUN Oncogene KIT KIT, PBT G Oncogene LCO LCO G Oncogene I-myc G GOncogeneIpsa <BR> <BR> Oncogenelyn G Oncogene maf G Oncogene mas1 Oncogene mcf2 G Oncogene mdm2 MDM2 G Oncogene mel G Oncogene met MET G Oncogene mos G Oncogene mpl G Oncogene GMUM1 Oncogene myb MYB G Oncogene GMYC Oncogene G Oncogene N-ras (neurobiastoma v-ras) NRAS G Oncogene ovc G Oncogene pim1 G Oncogene pti-1sea G Oncogene pvt1 G Oncogene raf RAF G Oncogene ralb G Oncogene rel G Oncogene ret RET G Oncogene r-myc G Oncogene ros G Oncogene R-ras G Oncogene sis PDGFB G Oncogene ski G Oncogene sno G Oncogene spi1 G Oncogene src G Oncogene tc21 G Oncogene TEL ETV6 G Oncogene tim G Oncogene vavtrk G Oncogene v-Ki-ras2 KRAS2 G Oncogene yes G Oncogene yuasa G Oncostatin M OSM G Oncostatin M receptor OSMR G Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N Orexin OX G Osteopontin OPN G Oxytocin OXT N Oxytocin receptor OXTR N Paired box homeotic gene 3 PAX3 G Paired box homeotic gene 6 PAX6 G Paired box homeotic gene 7 PAX7 G Paired-like homeodomain transcription factor 2 PITX2 G Paired-like homeodomain transcription factor 3 PITX3 G Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parvalbumin PVALB G Patched (Drosophila) homolog, PTCH PTCH G PCNA (proliferating cell nuclear antigen) E Peanut-like 1 PNUTL1 Peroxisome proliferative activated receptor, PPARA T alpha Peroxisome proliferative activated receptor, PPARG T gamma P-glycoprotein TPGY1 P-glycoprotein 3 PGY3 T Phenylalanine hydroxylase PAH E Phosphatase & tensin homolog PTEN G Phosphatidylinositol glycan, class A PIGA G (paroxysmal nocturnal hemoglobinuria) Phospholipase A2, group 10 PLA2G10 I Phospholipase A2, group 1 B PLA2G1 B I Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I <BR> <BR> Phospholipase A2, group 6 PLA2G6 I Phospholipase C epsilon Phosphomannomutase 1 PMM1 G Phosphomannomutase 2 PMM2 G Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PAI2 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Platelet glycoprotein 1 b, beta GP1 BB I <BR> <BR> Platelet glycoprotein 1 b, gamma GP1 BG I<BR> <BR> <BR> <BR> <BR> Platelet glycoprotein IX GP9 I Platelet glycoprotein V GP5 I Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassiumvoltage-gated channelA1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N POU domain, class 1, transcription factor 1 POU1 F1 G (Pit1) POU domain, class 3, transcription factor 4 POU3F4 G POU domain, class 4, transcription factor 3 POU4F3 G Pre-B-cell factor1PBX1Gtranscription Preproglucagon GCG; GLP1; GLP2 G Preproglucagon T Prion protein PRNP N Prodynorphin N Progesterone receptor (RU486 binding PGR G receptor) Prohibitin PHB G Prolactin PRL G Prolactin receptor PRLR G Prolactin releasing hormone PRH G Proliferin PLF G Promyelocytic leukemia gene PML G Proopiomelanocortin POMC N Prophetof Pit1 PROP1 G <BR> <BR> Prostacyclin synthase I<BR> <BR> <BR> <BR> Prostaglandin 15-OH dehydrogenase HGPD; PGDH I<BR> <BR> <BR> <BR> <BR> Prostaglandin D-DP receptor I<BR> <BR> <BR> <BR> Prostaglandin E1 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E2 receptor I Prostaglandin E3 receptorI Prostaglandin F-FP receptorI Prostaglandin IP receptorI Prostate cancer anti-metastasis gene KA ! 1 KA) 1 G Protein kinase B PRKB Protein kinase C, alpha PRKCA E Protein phosphatase 2, regulatory subunit A, PPP2R1 B E beta isoform Protein tyrosine phosphatase, non-receptor PTPN12 G type 12 Purine nucieoside phosphorylase NP E Purinergic receptor P1A1 N Purinergic receptor P1A2 N Purinergic receptor P1 A3 N Purinergic receptor P2X, 1 P2RX1 N Purinergic receptor P2X, 2 P2RX2 N Purinergic receptor P2X, 3 P2RX3 N Purinergic receptor P2X, 4 P2RX4 N Purinergic receptor P2X, 5 P2RX5 N Purinergic receptor P2X, 6 P2RX6 N Purinergic receptor P2X, 7 P2RX7 N Purinergic receptor P2Y, 1 P2RY1 N Purinergic receptor P2Y, 11 P2RY11 N Purinergic receptor P2Y, 2 P2RY2 N Rabphilin N RAD51, DNA repair protein RAD51 G RAD52, DNA repair protein RAD52 G RAD54, DNA repair protein RAD54 G RAD55, DNA repair protein RAD55 G RAD57, DNA repair protein RAD57 G RAS-associated protein, RAB3A RAB3A N Ras-G-protein RAS G Receptor tyrosine kinase (RTK), Nsk2 NSK2 G Relaxin H1 RLN1 G Relaxin H2 RLN2 G Replication factor A E Replication factor C RFC2 E Retinoblastoma 1 RB1 G Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G Retinoic acid receptor, gamma RARG G Retinoschisis, X-linked, juvenile RS G Rhabdoid tumors SMARCB1 G Ribonucleotide reductase, RRM E Ribosomal protein L13A RPL13A G Ribosomal protein L17 RPL17 G Ribosomal protein S6 kinase RPS6KA3 E RIGUI RIGUI G <BR> <BR> <BR> Rim N Ryanodine receptor 1, skeletal RYR1 G S-adenosylmethionine decarboxylase, AMD E SAP (SLAM-associated protein) SH2D1A Secretin SCT T Secretin receptor, SCTR SCTR T Serine hydroxymethyltransferase SHMT E Serine/threonine kinase 11 STK11 G Serine/threonine kinase 2 STK2 G Serotonin receptor, 5HT1A HTR1AN Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Signal transducer and activator of transcription STAT1 G 1 Signal transducer and activator of transcription STAT2 G 2 Signal transducer and activator of transcription STAT3 G 3 Signal transducer and activator of transcription STAT4 G 4 Signal transducer and activator of transcription STAT5 G 5 Signaling lymphocyte activation molecule SLAM Sine oculis homeobox, drosophila, homolog 1 SIX1 G Sine ocutis homeobox, drosophila, homolog 2 SIX2 G Sine oculis homeobox, drosophila, homolog 5 SIX5 G Small nuclear ribonucleoprotein polypeptide N SNRPN S Smoothened (Drosophila) homolog SMOH G Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solutecarrierfamily1 (glutamatetransporter), SLC1A1 T member 1 Solutecarrierfamily1 (glutamatetransporter), SLC1A2 T member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 19 (folate transporter), SLC19A1 T member 1 Solute carrier family 25, member 12 SLC25A12 T Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Somatostatin SST N Somatostatin receptor, SSTR1 SSTR1 N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N Sorcin SRI T SOS1 guanine nucleotideexchangefactor SOS1 G SRY-box 11 SOX11 G Stem cell factor SCF G Steroid hormone receptor responsive DNA G elements Steroidogenic acute regulatory protein STAR T Substance P N <BR> <BR> Sulfonylurea receptor SUR G Suppression of tumorigenicity 3 gene ST3 G Suppression of tumorigenicity 8 gene ST8 G Surfeit 1 SURF1 G <BR> <BR> Synapsin1a&1bSYN1N Synapsin 2a SYN2N2b Synaptic vesicle protein NSV2 Synaptobrevin 1SYB1N Synaptobrevin 2 SYB2 N <BR> <BR> SynaptogyrinN Synaptophysin SYP N Synaptosomal-associated protein, 25KD SNAP25 N Synaptotagmin 1 SYT1 N Synaptotagmin 2 SYT2 N <BR> <BR> Syndecan 1 SYND1 G Syndecan 2 SYND2 G Syndecan 3 SYND3 G Syndecan GSYND4 Synovial sarcoma gene GSSX1 Synovial sarcoma gene 2 SSX2 G Syntaxin 1 STX1 N Tachykinin receptor, NTACR1 Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N <BR> <BR> Talin TLN G<BR> <BR> <BR> <BR> <BR> <BR> Talin, TLN S T-cell acute lymphocytic leukemia 1 TAL1 I T-cell acute lymphocytic leukemia 2 TAL2 T-cell receptor, ITCRA T-cell receptor, delta TCRD I Telomerase protein component E Tenascin (cytotactin) S Tenascin XA TNXA S Terminal deoxynucleotidyltransferase, TDT E Testis-specific protein Y TSPY G Thrombopoietin THPO G Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 <BR> <BR> Thromboxane A2 receptor TBXA2R Thy-1 T-cell antigen THY1 Thymidylate synthase TYMS E Thymopoietin TMPO G Thymosin I Thyroid-stimulating hormone receptor TSHR G Thyroid-stimulating hormone, alpha TSHA G Thyroid-stimulating hormone, beta TSHB G Thyrotropin releasing hormone TRH N Thyrotropin releasing hormone TRH G Thyrotropin releasing hormone receptor TRHR N <BR> <BR> Tip-associated protein TAP I Tissue inhibitor of metalloproteinase 1, TIMP1 TIMP1 E Tissue inhibitor of metalloproteinase 2, TIMP2 TIMP2 E Tissue inhibitor of metalloproteinase 3, TIMP3 TIMP3 E Tissue inhibitor of metalloproteinase 4, TIMP4 TIMP4 E <BR> <BR> Topoisomerase) I I E Transacyiase E Transcobalamin 1, TCN1 T Transcobalamin 2, TCN2 TCN2 T Transcription factor 1, hepatic TCF1 G Transcription factor 2, hepatic TCF2 G Transcription factor 3 TCF3 G Transcription factor binding to IGHM enhancer TFE3 G 3 Transcription termination factor, RNA TTF1 G polymerase 1 Transcription termination factor, RNA TTF2 G polymerase 2 Transcription termination factor, RNA TTF3 G polymerase 3 Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, alpha TGFA G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Translocation in renal carcinoma on TRC8 G chromosome 8 gene Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tubulin S Tumor susceptibility gene 101 TSG101 G Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 I associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 I associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 I associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 I associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 I associated factor 6 <BR> <BR> <BR> Tumour necrosis factor alpha TNFA I Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB Tumour necrosis factor beta receptor TNFBR <BR> <BR> Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tumour protein p73 TP73 G <BR> <BR> Tumourprotein, translationally-controlled 1 TPT1 G Tumour suppresssor gene DRA DRA I Twist (Drosophila) homolog TWIST G Ubiquitin G Ubiquitin activating enzyme, E1 E UbiquitinB UBB G UbiquitinC UBC G Ubiquitin fusion degeneration 1-like UFD1L G Ubiquitin protein ligase E3A UBE3A E Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Vitamin B12-binding (R) protein G Vitamin D receptor VDR G <BR> <BR> v-myc avian myelocytomatosis viral oncogene MYC G<BR> <BR> <BR> <BR> <BR> homolog Von Hippel-Lindau gene VHL G Werner syndrome helicase WRN G Wilms tumour gene 1 WT1 G Wilms tumour gene 2 WT2 G Wilms tumour gene 4 WT4 G Winged helix nude WHN G Wiskott-Aldrich syndrome protein WASP, THC I Xeroderma pigmentosum, complementation XPB E group B Xeroderma pigmentosum, complementation XPC E group C Xeroderma pigmentosum, complementation E group D Xeroderma pigmentosum, complementation E group E Xeroderma pigmentosum, complementation XPF E group F Xeroderma pigmentosum, complementation ERCC5 E group G X-ray repair gene XRCC9 G YY1 YY1Gfactor protein198ZIC198SZincfinger <BR> <BR> Zinc finger protein HRX ALL1 I In a third aspect.

CENTRAL NERVOUS SYSTEM (NEUROLOGICAL, NEUROPSYCHIATRIC, PSYCHIATRIC, PSYCHOLOGICAL AND SOCIAL) DYSFUNCTION, DISEASE AND DAMAGE The invention relates to a method of assessing the risk of developing the clinical or social consequences of central nervous system dysfunction, damage or disease and indicating appropriate therapeutic interventions.

The 1990's has been heralded as the'decade of the brain'and the cumulative efforts of research groups around the world have led to considerable advances in our understanding of the principles, physiology and mechanisms of brain or more properly central nervous system (CNS) function.

The primary role of CNS function is to gather, integrate, and evaluate information concerning the organisms internal and external environments and then formulate actions designed to achieve the organisms'goals. In man such a simplistic summary lies behind our understanding of the physiology of the simple reflex ark and our crude attempts at investigating the information processing/physiology interface which enables the higher cognitive functions (e. g. reading, writing, mathematics, music etc.).

The CNS often referred to as a single organ in the body. In reality it is a closely interconnected series of specialised sub-organs (e. g. hypothalamus, cortex, cerebellum, thalamus etc) which are known to have discrete functions. Understanding brain function implies a clear understanding of the biochemical, physiological and informational parameters which enable the interconnections between these sub-organs and which control the nature, direction and volume of information flow between them.

The CNS is made up of two major types of cells-neurones and glia. Neurones have a variety of morphological types (Betz cell, pyramidal cell etc) but each type has a common set of morphological features-cell body, dendrites, axon and axon terminals. Axons can be very long (up to 1 metre for spinal tracts) and project to distant regions of the CNS. Bundles of axons form the white matter tracts within the CNS. In terms of the processes of communication dendrites and axons are critical features as incoming information is usually received on dendrites whereas axons are the channels for information outflow. Communication between neurones is achieved by means of the release of neurotransmitters (a label which includes many types of molecules e. g. peptides, amines and nitric oxide) from specialised sites on axons- synapses. Thus, the release of neurotransmitters and their movement across the synaptic gap and interaction with receptor sites on neighbouring neurones is the core functional mechanism in the CNS.

Glial cells outnumber neurones and are divided into astrocytes, oligodendrocytes and microglia. Glia had been considered as having a'support'role for neuronal functioning. It is now realised that their functions extend far beyond this and that they may be actively involved in the information processing function and in the modulation of the neuronal environment. Microglia have a critical role in the response of the CNS to disease, infection and damage. Such events'activate'microglia causing them to release a variety of factors (e. g. cytokines, growth factors) which aid the recovery and regeneration of CNS functions.

The point to point contact between specific sets of neurones is critical for CNS function. Failure of this point to point contact either through dysfunction, damage or disease lies at the heart of the appearance of neurological, psychiatric, psychological or social difficulties following such events (Roberts, Leigh and Weinberger 1993, Youdofsky and Hales 1994, Gelder 1996, Weatherall, Leadingham and Warrell 1996) Lishman 1997).

The information processing capacity of the CNS can be compromised in a number of ways. These can be categorised as: dysfunction, damage or disease.

CNS DYSFUNCTION A number of disorders present as subtle or marked changes from socially accepted norms in the way that ideas, thoughts or mood states are experienced or acted upon. In many cases although the presence of such phenomena can be readily documented at clinical interview, the identification of a CNS lesion or biochemical abnormality is not possible. Examples of this type of CNS dysfunction include, depression, anxiety, obssessive behaviour, delusions, hallucinations, trances and fugue-like states (Gelder et al 1996, Lishman 1997). Such types of disorders include; Schizophrenia Depression Anxiety states Mania Delirium Paranoia Personality disorders Sleep disorders Psychopathic disorders Sociopathic disorders In many of these disorders drug therapy design to modify the actions of particular neurotransmitters can be very effective (e. g. neuroleptics, lithium, benzodiazepines).

CNS DAMAGE The CNS is a metabolically active soft jelly like tissue, floating within a rigid box- the skull. As a result of its physical structure it is vulnerable to damage caused by events which physically separate nerve connections, alter patterns of nerve growth, cause fluctuations in the delivery of nutrients and oxygen (either directly or as a result of compromised function in other organs) or clearance of toxins or wastes or result in a space occupying lesion. Common causes of CNS damage include; Head and spinal trauma Birth complications Stroke Cardiovascular disease Epilepsy Tumours Blood-brain barrier compromise Drug abuse Oxygen deprivation Fever Malnutrition Developmental disorders CNS DISEASE A large number of diseases are known which result in compromise or degeneration of CNS tissues (Roberts, Leigh and Weinberger 1993, Ellison et al 1997, Lishman 1997). These diseases range from infection with viruses or bacteria, to degenerative disorders affecting specific regions, to auto-immune disorders. In many cases the incidence of disease will rise steeply with age (particularly true of the dementias). In a number of diseases genetic factors are known to be of particular importance (e. g. presenilin in Alzheimer's disease, prion protein in prion disease). Common diseases affecting the CNS include; Alzheimer's disease Parkinsons disease Cerebrovascular disease Meningitis AIDS dementia complex Endocrine disorders Muscular dystrophy Multiple sclerosis CNS dysfunction, damage and disease can give rise to a wide variety of symptoms, many of which will have profound clinical and social consequences. Symptoms and signs can range from mild forgetfulness to full blown dementia and slight tremors to status epilepticus. Because of the functional parcellation of the CNS the exact constellation of symptoms in any given case of CNS dysfunction, damage or disease will depend upon the site and extent of the CNS which has had its function compromised (Lishman 1997). The scientific understanding of CNS function has been harnessed to this clinical need and as a result drugs used to modify CNS function are now one of the most widely used category of drugs in medicine. Anaesthetics for pain relief, anti-psychotics for the symptoms of schizophrenia and anti-epileptics for seizure control are some examples of the diverse types of drugs currently available. In many cases good or adequate relief of symptoms can be achieved by appropriate treatments. However, many drugs used to treat CNS dysfunction, damage and disease have significant side effects and need to be used in a carefully controlled way (e. g. anti-psychotics are associated with the appearance of extrapyramidal symptoms, tardive dyskinesias and neuroleptic malignant syndrome Gelder et al 1996, Brody, Lamer and Minneman 1998,).

Although some success has been achieved with drugs designed to modulate the activity of neurotransmitters and their receptors (e. g. selective serotonin reuptake inhibitors for depression, cholinomimetics for cognition). Less progress has been made in therapeutic interventions aimed at restoring or regenerating lost or damaged nerve connections (e. g. such as those following spinal trauma) or aimed at replacing or augmenting neurones damaged or destroyed as a result of degenerative diseases (e. g neuronal loss in Parkinson's disease or prion disease). Preliminary studies with such approaches as neuronal transplantation or implants or infusion of growth factors have demonstrated limited success.

The physiology and control of the body's central nervous system is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from CNS dysfunction, damage or disease including genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio- economic circumstances. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to damage, dysfunction or disease affecting the CNS and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of CNS damage, dysfunction or disease.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION CNS GENE LIST HUGO gene Protein symbol function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E 2,3-bisphosphoglycerate mutase BPGM E 2,4-dienoyi CoA reductase DECR E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 3-oxoacid CoA transferase OXCT E 4-hydroxyphenylpyruvate dioxygenase HPD E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) 6-pyruvoyltetrahydropterin synthase PTS E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyi CoA acyltransferase ACAA E Acetyl CoA carboxylase alpha ACACA E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N <BR> <BR> Acetylcholinesterase ACHE E Acyl CoA dehydrogenase, long chain ACADL E AcylCoA dehydrogenase, medium chain ACADM E Acyl CoA dehydrogenase, short chain ACADS E <BR> <BR> Acyl-CoA thioesterase E Adaptin, beta 3A ADTB3A T Adducin, alpha ADD1 S Adducin, beta ADD2 S Adenosine monophosphate deaminase AMPD E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenyl cyclase N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E <BR> <BR> Adenylosuccinate lyase ADSL E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Adrenoleukodystrophy gene ALD E Albumin, ALB ALB T Aldehyde dehydrogenase 10 ALDH10 E <BR> <BR> Aidolase A ALDOA E<BR> <BR> <BR> <BR> Aldolase B ALDOB E<BR> <BR> <BR> <BR> Aldolase C ALDOC E<BR> <BR> <BR> <BR> Aldosterone receptor MLR G Alpha 2 macroglobulin A2M I <BR> <BR> alpha tectorin TECTA G alpha thalassemia gene ATRX N <BR> <BR> alpha 1-antitrypsin Pi E alpha2-antiplasmin PLI E alpha-Galactosidase A GLA E <BR> <BR> alpha-ketoglutarate dehydrogenase E<BR> <BR> <BR> <BR> <BR> alpha-L-iduronidase IDUA E alpha-synuclein SNCA N Aminomethyltransferase AMT E Aminopeptidase P XPNPEP2 E Amylo-1, 6-glucosidase AGL E Amyloid beta (A4) precursor protein-binding, APBB1 N APBB1 Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Angiopoietin GANGPT1 Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin AGTR1T1 Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E IAPOA1TApolipoproteinA Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Archaete-scute homolog 2 ASH2 G Arginase ARG1 E Arginine vasopressin AVP N Arginosuccinate lyase ASL E Arginosuccinate synthetase ASS E Arylsulfatase A ARSA E Arylsulfatase B ARSBE Arylsulfatase D ARSDE Arylsuifatase E ARSE E Arylsulfatase F ARSF E Aspartoacylase ASPA E <BR> <BR> Aspartylglucosaminidase AGA E Astrotactin ASTN G Ataxia telangiectasia complementation group ATD, ATDC G D Ataxia telangiectasia gene, AT ATM G ATP-binding cassette transporter 7 ABC7 I Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G beta-Glucuronidase GUSB E beta-synuclein SNCB N BilirubinUDP-glucuronosyltransferase E Bloom syndrome protein BLM G Bradykinin receptor B1 Bradykinin receptor B2 Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor Butyrylcholinesterase BCHE E Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G CALNA1ICalcineurinA1 <BR> <BR> <BR> Calcineurin A2 CALNA2 I<BR> <BR> <BR> <BR> <BR> Calcineurin A3 CALNA3 I Calcineurin B I Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calciumchannel, CACNA1FNalpha 1 F subunit Calcium channel, CACNA1BNAlpha- 1B(CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1 C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calciumchannel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta voltage-dependent,Calciumchannel, Beta NCACNB1 Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Calretinin CALB2 N Cannabinoid receptor CNR1 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E <BR> <BR> Cardiac-specifichomeobox, CSX CSX G Carnitine acetyltransferase CRAT E Carnitine acylcarnitine translocase CACT E Carnitine transporter protein CDSP, SCD T Carnosinase N <BR> <BR> <BR> Caspase 1 CASP1 G<BR> <BR> <BR> <BR> Catechol-O-methyltransferase COMT E<BR> <BR> <BR> <BR> CD1 CD1<BR> <BR> <BR> <BR> <BR> CD4 CD4 Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Ceroid iipofuscinosis neuronal 2 CLN2 N Ceroid lipofuscinosis neuronal 3 CLN3 N Ceroid lipofuscinosis neuronal 4 CLN4 N Ceroid lipofuscinosis neuronal 5 CLN5 N Ceroid lipofuscinosis neuronal 6 CLN6 N Chemokine receptor CCR2 CCR2 Chemokine receptorCCR3 CCR3 Chemokine receptorCCR5 CCR5 Chemokine receptor CXCR4 CXCR4 I Chloride channel 1, skeletal muscle CLCN1 S Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Cholineacetyltransferase CHAT E Choroideremia SCHM Chromogranin A CHGA G <BR> <BR> ChymotrypsinogenE Ciliary neurotrophic factor (CNTF) CNTF G Ciliary neurotrophic factor (CNTF) receptor CNTFR G <BR> <BR> CtathrinT CoA transferase E <BR> <BR> CochinCOCH) Cockayne syndrome gene, CKN1 CKN1 G <BR> <BR> CofitinS<BR> <BR> <BR> <BR> <BR> Collagen I alpha 1 COL1A1 S Collagen I COL1A2S2 Collagen II alpha 1 COL2A1 S Collage III alpha 1 COL3A1 S Collagen 1COL4A1Salpha Collage IV alpha 2 COL4A2 S Collagen 3COL4A3Salpha Collagen 4COL4A4Salpha Collagen 5COL4A5Salpha Collagen IV alpha 6 COL4A6 S Collagen IX alpha 2 COL9A2, EDM2 S Collagen IX alpha 3 COL9A3 S Collagen SCOLR Collagen1COL5A1Salpha Collagen V alpha 2 COL5A2 S alpha1COL6a1SCollagenVI Collagen VI alpha 2 COL6A2 S Collagen VI alpha 3 COL6A3 S Collagen Vil alpha 1 COL7A1 S Collagen X alpha 1 COL10A1 S Collagen X alpha 1 COL11A1 S Collagen XI alpha 2 COL11A2 S <BR> <BR> Collagen XVII alpha 1 COL17A1 S Collagenic-like tail subunit of asymmetric COLQ E acetylcholinesterase Colony-stimulating factor GCSF1 Colony-stimulating factor 1 receptor CSF1 R G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Colony-stimulating factor 2 beta receptor CSF2RB G ComplexV MTATP6 E Cone-rod homeobox-containing gene CRX G <BR> <BR> Contactin CNTN 1 G Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Creb binding protein CREBBP G Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP response element binding protein CREB G Cyclic AMP-dependent protein kinase PKA E Cyclic nucleotide gated channel alpha 1, CNGA1 N CNGA1 Cyclic nucleotide gated channel alpha 3, CNGA3 N CNGA3 Cyclic nucleotide phosphodiesterase 1 B PDE1 B E Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclin-dependent kinase 2 CDK2 G Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E <BR> <BR> CYP11A1 CYP11A1 E ECYP11B1CYP11B1 ECYP11B2CYP11B2 <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> CYP19 CYP19 E ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18 CYP2C18 E ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E<BR> <BR> <BR> <BR> <BR> CYP4BI CYP4Bl E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystatin B CSTB T CST3TCystatinC TCystinosinCTNS Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 I binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 DAX1DAX1Ireceptor Deafness autosomal dominant 5 DFNA5 N Deafness dystonia peptide DDP N Deleted in malignant brain tumours 1 DMBT1 G Delta aminolevulinate dehydratase ALAD E Delta-7-dehydrocholesterol reductase DHCR7 E DHEA sulfotransferase STD E Diaphanous 1 DIAPH1 N Diaphanous 2 DIAPH2 N Dihydrolipoamide branched chain DBT N <BR> <BR> transacylase<BR> <BR> <BR> <BR> <BR> Dihydrolipoamide dehydrogenase DLD N Dihydrolipoyldehydrogenase 2 PDHA E Dihydrolipoyl transacetylase PDHA E <BR> <BR> Dihydroxyacetonephosphate acyltransferase DHAPAT E DNA glycosylases E DNA helicases E DNA Ligase 1 LIG1 E DNA methyltransferase DNMT E <BR> <BR> DOPA decarboxylase DDC E Dopamine beta hydroxylase DBH E Dopamine receptors D1DRD1N Dopamine receptors D2DRD2N Dopamine receptors D3DRD3N Dopamine receptors D4DRD4N Dopamine receptors D5DRD5N Doublecortin, DCX DCX S <BR> <BR> Dynamin DNM1 G Dystonia 1 DYT1 S Dystonia SDYT3 Dystonia SDYT6 Dystonia SDYT7 Dystonia SCSE Dystrophia myotonica DM, DMPK E Dystrophia myotonica, atypical DM2 E <BR> <BR> Dystrophin DMD S Ectodermal Dysplasia 1 geneED1S Electron-transfering-flavoprotein alpha ETFA T Electron-transfering-flavoprotein beta ETFB T <BR> <BR> Electron-transferring flavoprotein ETFDH E dehydrogenase Emerin EMD T Empty spiracles (drosophila) homologue 1 EMX1 G Empty spiracles (drosophila) homologue 2 EMX2 G Endobrevin VAMP8 N <BR> <BR> Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Enoyl CoA isomerase E Enoyl CoA reductase E Enterokinase PRSS7, ENTK E Ephrin-A EFNA G Ephrin-B EFNB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Epilepsy, progressive myoclonic 2 gene EPM2A E EWS RNA-binding protein EWSR1 G Excision repair complementation group 4 ERCC4 E protein Exostosin 1 EXT1 S Exostosin 2 EXT2 S Factor 1 (No. one) F1 I <BR> <BR> Factor III F3 I<BR> <BR> <BR> <BR> Factor IX F9 I Factor IF5 Factor VII F7 Factor VI I I F8I <BR> <BR> <BR> Factor X F10 Factor XI Fll Factor Xll F12 Factor XIII A & B F13A & F13B I Fanconi anemia, complementation group A FANCA T Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fibrillin2 FBN2 G Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen gamma FGG S Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G <BR> <BR> Flightless-l l, Drosophila homolog of FLII G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Forkhead transcription factor 10 FKHL10 G Formiminotransferase E Fragile site, folic acid type, rare, fra (X) A FRAXA N Fragile site, folic acid type, rare, fra (X) E FRAXE N Fragile site, folic acid type, rare, fra (X) F FRAXF N Frataxin FRDA G Fructose-1,6-diphosphatase FBP1 E <BR> <BR> Fukuyama type congenital muscular FCMD G dystrophy GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABA transaminase ABAT E <BR> <BR> <BR> Galactocerebrosidase GALC E Galactose 1-phosphate uridyl-transferase GALT E Galactosyltransferase 1 GT1 G Gaiactosyitransferase, alpha 1,3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyltransferase 1 GGT1 T Gap junction protein beta 2 GJB2 T Gap junction protein beta 3 GJB3 T Gastric Intrinsic factor, GIF GIF E Gastrulation brain homeobox 2 GBX2 G Geniospasm 1 GSM1 G Gephyrin N Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glucosidase, acid alpha GAA E Glutamate decarboxylase, GAD GAD1 E Glutamate dehydrogenase GLUD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutamate-cysteine ligase GLCLC E Glutaryl-CoA dehydrogenase GCDH E Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E Glutathione synthetase GSS E Glyceraldehyde-3-phosphate GAPDH E dehydrogenase, GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformyiase Glycine dehydrogenase GLDC E Glycine receptor, alpha GLRA2 N Glycine receptor, beta N Glycine transporter GLYT N Glycogen phosphorylase PYGL E GM2 ganglioside activator protein, GM2A GM2A E Gonadotropin releasing hormone receptor GNRHR G GTP cylcohydrolase 1 GCH1 G Guanidinoacetate N-methyltransferase GAMT E Guanine nucleotide-binding protein, alpha GNAO1 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNA) 1 Guanine nucleotide-binding protein, alpha GNAI2 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNA13 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanyiate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylate kinase E Guanylyl cyclase E Gustducin, alpha (taste-specific G protein) GDCA N Haeme regulated inhibitor kinase E Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Heat shock protein, HSP60 I Heat shock protein, HSP70 I Heat shock protein, HSP90 I Heat shock protein, HSPA1 Heat shock protein, HSPA2 I Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G Heparin Cofactor II HCF2 I Hepatic lipase LIPC E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Hippocampal cholinergic neurostimulating peptide, HCNP N Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N Histidase E HLA-B associated transcript 1 BAT1 I HLH transcription factor HAND1 HAND1 G HLH transcription factor HAND2 HAND2 G HMG-CoA lyase HMGCL E HMGCREHMG-CoAreductase Holocarboxylase synthetase HLCS E Homeobox HB9 HLXB9 G Human atonal gene ATOH1 G Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT factor1HIF1AEHypoxiainducible Hypoxia inducible factor 2 E IC7 A and B I Inositol 1,4,5-triphosphate receptor1 ITPR1 G Inositol monophosphatase I MPA1 N Inositol polyphosphate 1-phosphatase INPP1 N Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin, alpha 1 ITGA1 G Integrin, alpha M ITGAM G Inter-alpha-trypsin inhibitor, IATI E Interleukin (IL) 1 receptor lLlR I Interleukin (IL) 1, alpha IL Interleukin(IL) 1, beta IL1B I <BR> <BR> Interieukin (IL) 10 IL10 I Interleukin (IL) 10 receptor IL10R I IL11IInterleukin(IL)11 Interleukin (IL) 11 receptor IL11R I <BR> <BR> Interleukin (IL) 12 IL12 I Interleukin (IL) 12 receptor, beta 1 IL12RB1 I Interleukin(IL) 13 I Interleukin (IL) 13 receptor IL13R I <BR> <BR> Interleukin (IL) 2 IL2 I Interleukin (IL) 2 receptor, alpha IL2RA I Interleukin (IL) 2 receptor, gamma IL2RG I Interieukin (IL) 3 IL3 Interleukin(IL) 3 IIL3R Interieukin (IL) 4 IL4 I Interleukin (IL) 4 receptor IL4R Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R Interleukin (IL) 6 IL6 I Interleukin(IL) 6 IIL6R IL7IInterleukin(IL)7 Interleukin (IL) 7 receptor IL7R IL8IInterleukin(IL)8 Interleukin (IL) 8 receptor IL8R I <BR> <BR> Interleukin (IL) 9 IL9 Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I IP3 kinase E Isovaleric acid CoA dehydrogenase IVD E KallikreinIKAK3 Kallman1KAL1Ggene Ketohexokinase KHK E Kininogen, High molecular weight KNG I Kynureninease E L1 cell adhesion molecule L1CAM N Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta LTBP2 G binding protein 2 Leptin LEP G Leptin receptor LEPR G Leukaemia inhibitory factor LIF G Leukaemia inhibitory factor receptor LIFR G Leukin I Leukocyte-specific transcript 1 LST-1 I Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 I LIM homeobox protein 1 LHX1 G LIM homeobox protein 2 LHX2 G LIM homeobox protein 3 LHX3 G LIM homeobox protein 4 LHX4 G Limbic associated membrane protein LAMP G LIM-dmain only protein 1 LM01 G LIM-domain only protein 2 LM02 G LIM-domain only protein 3 LM03 G LIM-domain only protein 4 LM04 G LIM-Kinase I (LINK-I) I Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Intermediate DensityT Lipoprotein, Low Density 1T Lipoprotein, Low Density 2T Lipoprotein, Very Low Density VLDLR T Low density lipoprotein receptor-related LRP T protein precursor Lymphoid enhancer-binding factor LEF-1 G MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 Malonyl CoA decarboxylase E Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E Marenostrin MEFV T Melatonin receptor 1 A MTNR1 A N Melatonin receptor NMTNR1B Methylguanine-DNA methyltransferase MGMT E Methylmalonyt-CoA mutase MUT E Mevalonate kinase MVK E Microsomal triglyceride transfer protein MTP T Microtuble associated protein MAP S Mismatch repair gene, PMSL2 PMS2 G Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Msh homeobox homolog 2 MSX2 G Mucolipidoses GNPTA E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myelin protein peripheral 22 PMP22 S Myelin protein zero MPZ S Myogenic factor 3 MYF3 G Myogenic factor 4 MYF4 G Myogenic factor 5 MYF5 G Myosin 15 MY015 S Myosin 6 MY06 S Myosin 7A MY07A S <BR> <BR> Myotubularin MTM1 S Na+, aiphaATP1A1GATPase, Na+, K+ ATPase, beta 1 ATP1B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G EN-acetylglucosamine-6-sulfataseGNS N-acetylglucosaminidase, alpha NAGLU E NADHdehydrogenase E NADPH-dependent cytochrome P450 POR E reductase NB6 I <BR> <BR> <BR> Nebulin NEB S Necdin NDN G Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neural retina-specific gene NRL G Neuraminidase sialidase NEU T <BR> <BR> <BR> Neuregulin HGL G Neurite growth-promoting factor 2 MDK N Neurite inhibitory protein N Neuroendocrine convertase 1 NEC1, PCSK1 E Neurofibromin1 NF1 G Neurofibromin2 NF2 G <BR> <BR> <BR> Neurofitamentprotein,heavyNFHS Neurofilament protein, NF125 NF150 S Neurofiiament protein, NF200 NF200 S Neurofilament protein, NF68 NF68 S NeurokininA NKNA N NeurokininB NKNB N Neuronal apoptosis inhibitory protein NAIP I Neuronal molecule-1 I Neuronal molecule-1 receptor I <BR> <BR> Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Neutral endopeptidase E Niemann-Pick disease protein NPC1 T Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Notch 1 NOTCH1 G Notch 2 NOTCH2 G Notch 3 NOTCH3 G Notch ligand-jagged 1 JAG1, AGS G Nuclear factor I-kappa-B-like gene IKBL I Nucleoside diphosphate kinase-A NDPKA E Oncogene bcl2 G Oncogene GO11 GLU G Oncogene GL12 GL12 G Oncogene GGLI3 Oncogene sis PDGFB G Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N Ornithine delta-aminotransferase OAT E Ornithinetranscarbamoylase OTC, NME1 E Orthodenticle (Drosophila) homolog 1 OTX1 G Orthodenticle (Drosophila) homolog 2 OTX2 G Otoferlin OTOF N Paired box homeotic gene 2 PAX2 G Paired box homeotic gene 3 PAX3 G Palmitoyl-protein thioesterase PPT T Parkin PARK2 N Patched (Drosophila) homolog, PTCH PTCH G Peanut-like 1 PNUTL1 Peptidylglycine alpha-amidating PAM E monooxygenase Peripherin, PRPH S Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome receptor 1 PXR1 T <BR> <BR> Persyn S Phosphate regulating gene with homologies PHEX G to endopeptidases on the X chromosome Phosphatidylinositol transfer protein PITPN G <BR> <BR> Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phospholipase A2, group 10 PLA2G10 Phospholipase A2, group 1 B PLA2G1 B Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I <BR> <BR> Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Phosphomannomutase 2 PMM2 G Phosphoribosyl pyrophosphate synthetase PRPS1 E Phytanoyl-CoA hydroxylase PHYH G Plakophilin 1 PKP1 T Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PA12 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Platelet-activating factor receptor PAFR I Plectin 1 PLEC1 T Postsynaptic density-95 protein PSD95 N Potassium channel, calcium-activated, KCNN4 N Potassium channel, subfamily K, member 1 KCNK1 N Potassium channel, subfamily K, member 2 KCNK2 N Potassium channel, subfamily K, member 3 KCNK3 N Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N Potassium voltage-gated channel Q4 KCNQ4 N POU domain, class 1, transcription factor 1 POU1 F1 G (Pit1) POU domain, class 3, transcription factor 4 POU3F4 G POU domain, class 4, transcription factor 3 POU4F3 G Prekallikrein I Preproenkephalin PENK N Presenilin 1 PSEN1 T Presenilin 2 PSEN2 T Prion protein PRNP N Procollagen N-protease E Proline dehydrogenase PRODH E Pro-melanin-concentrating hormone PMCH G Proopiomelanocortin POMC N Prosaposin PSAP N Prostacyclin synthase I Prostaglandin 15-OH dehydrogenase HGPD; PGDH I Prostaglandin D-DP receptor I Prostaglandin E1 receptor I <BR> <BR> Prostaglandin E2 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E3 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin F-FP receptor I Prostaglandin 12 receptor T Prostaglandin IP receptor I Protease nexin 2 PN2 E Protective protein for beta-galactosidase PPGB E Protein IPROC Protein C inhibitor PCI I Protein kinase C, alpha PRKCA E Protein kinase C, gamma PRKCG E Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1 R3 E subunit 3 Protein IPROS1 Prothrombin precursor F2 I Purine nucleoside phosphorylase NP E Pyrroline-5-carboxylate synthetase PYCS E Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Ras-G-protein RAS G Rathke pouch homeobox, RPX RPX G Renin REN E Replicationfactor C RFC2 E Retinal specificproteinRPE65Sepithelium (65kD) Retinaldehyde binding protein 1 RLBP1 T Retinoblastoma 1 RB1 G Rhodopsin kinase RHOK E RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100S100calcium-binding protein NS100A9 S100 calcium-binding protein B S100B N S100S100calcium-binding protein NS100P Secretase, alpha N Secretase, beta N Secretase, gamma N Selectin E SELE N Selectin L SELL N Selectin P SELP N Semaphorin A4 SEMA4 S Semaphorin A5 SEMA5 S Semaphorin D S Semaphorin E SEMAE S Semaphorin F SEMA3/F S Semaphorin W SEMAW S Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Signaling lymphocyte activation molecule SLAM I Slug protein G Small nuclear ribonucleoprotein polypeptide SNRPN S N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage gated, type IV, SCN4A N alpha polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solutecarrierfamily1 (aminoacid SLC1A6 T transporter), member 6 Solute carrierfamily 1 (glial high affinity SLC1A3 T glutamate transporter), member 3 Solute carrierfamily 1 (glutamate SLC1A1 T transporter), member 1 Solute carrierfamily 1 (giutamate SLC1A2 T transporter), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 20, member 3 SLC20A3 T Solute carrier family 25, member 12 SLC25A12 T Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 6, member 6 SLC6A6 T Solute carrier family 7 (amino acid SLC7A1 T transporter), member 1 Solute carrier family 7 (amino acid SLC7A2 T transporter), member 2 Solute carrier family 7 (amino acid SLC7A7 T transporter), member 7 Somatostatin SST N Somatostatin receptor, SSTR1 SSTR1 N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N Spastic paraplegia 7 SPG7 G Spectrin beta SPTB S Sphingomyelinase SMPD1 E Spinocerebellar ataxia 8 gene SCA8 N SRY-box 11 SOX11 G Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Steroid sulphatase STS E Substance P N Succinic semi-aldehyde dehydrogenase ssadh E Sulfamidase SGSH G Sulfite oxidase SUOX E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfeit 1 SURF1 G Survival of motor neuron 1, telomeric SMN1 T <BR> <BR> Synapsin 1 a & 1 b SYN1 N Synapsin 2a & 2b SYN2 N Synaptic vesicle amine transporter SVAT N <BR> <BR> Synaptic vesicle protein 2 SV2 N Synaptobrevin 1 SYB1 N Synaptobrevin 2 SYB2 N <BR> <BR> SynaptogyrinN Synaptophysin SYP N Synaptosomal-associated protein, 25KD SNAP25 N Synaptotagmin 1 SYT1 N Synaptotagmin 2 SYT2 N Syntaxin 1 STX1 N Tachykinin receptor, NTACR1 Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N <BR> <BR> Talin TLN G Tau protein MAPT S TEK, tyrosine kinase, endothelial TEK E Telomerase protein component E <BR> <BR> Thio!ase,perioxisomaiE Thrombin receptor F2R I Thrombopoietin THPO G Thromboxane A synthase 1 TBXAS1 Thromboxane A2 TXA2 I <BR> <BR> Thromboxane A2 receptor TBXA2R I Thy-1 T-cell antigen THY1 Thyroxin-binding globulin TBG T Tocopherol (alpha) transfer protein TTPA T Topoisomerase I E Torticollis, keloids, cryptorchidism and renal TKCR G dysplasia gene Transacylase E Transferrin receptor TFRC G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G <BR> <BR> Transketolase-like 1 TKTL1 E Transthyretin TTR T Tremor, essential 1 ETM1 N Tremor, essential 2 ETM2 N Triosephosphate isomerase TP11 E Tropomyosin 3 (non-muscle) TPM3 S Tryptophan hydroxylase TPH E Tubby-like protein 1 TULP1 G Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tumour necrosis factor (TNF) receptor TRAF1 ! associated factor 1 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF2 t associated factor 2 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF3 i associated factor 3 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF4 i associated factor 4 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF5 i associated factor 5 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF6 ! associated factor 6 <BR> <BR> <BR> Tumour necrosis factor alpha TNFA !<BR> <BR> <BR> <BR> Tumour necrosis factor alpha receptor TNFAR !<BR> <BR> <BR> <BR> Tumour necrosis factor beta TNFB i Tumour necrosis factor beta receptor TNFBR I Tumour protein p53 TP53, P53 G Tumour protein p73 TP73 G Tyrosine aminotransferase TAT E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin B UBB G Ubiquitin C UBC G Ubiquitin carboxyl-terminalesterase L1 UCHL1 G UDP-glucuronosyltransferase 1 ugt1 d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Urate oxidase UOX E Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Uroporphyrinogen III synthase UROS E Usher syndrome 2A USH2A S Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Vesicular monoamine transporter 1 VMAT1 N Vesicular monoamine transporter 2 VMAT2 N Vitamin B12-binding (R) protein G Von Hippel-Lindau gene VHL G Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Wolfram syndrome 1 gene WFS1 S Xanthine dehydrogenase XDH E Xeroderma pigmentosum, complementation XPA E group A Zinc finger protein 2 ZIC2 S In a fourth aspect.

BEHAVIOURAL DISTURBANCE The present invention relates to a method of assessing the risk of developing the symptoms of aggression and behavioural disturbance in patients with psychiatric or neuropsychiatric disorders or following traumatic brain injury, ischaemic brain damage or stroke.

Aggression, irritability and behavioural disturbance are major sources of disability in patients with psychiatric disorders or injury induced brain damage. Such symptoms lead to difficulties in the clinical care of patients, difficulties in the treatment and recovery of patients and lead to stress and anxiety in their carers and families.

Many studies have documented the appearance of aggression and irritability in a subset of patients following traumatic brain injury and also in patients with schizophrenia, depression, epilepsy and dementia (Youdofsky and Hales 1994, Lishman 1997) The biology underpinning the appearance of aggressive symptoms and behavioural disturbance in humans is uncertain and its genetic background unknown (OMIM Database 1998).

Explosive and violent behaviours are a known consequence of focal brain injury and diffuse damage to the central nervous system (Lishman 1997) and are referred to in DSM III-R as the organic personality syndrome. However, it is known that failure to control aggression and disturbed behaviours can occur in the absence of the personality disturbances specified in DSM-III-R.

Agressive behaviours and associated behavioural disturbance are a relatively common feature of many neuropsychiatric disorders and can often arise in patients following traumatic brain injury, stroke or ischaemic damage following medical procedures.

It is presumed that a similar (although perhaps less extreme) physiology underlies the expression of aggression and behavioural disturbance in persons without the background of a diagnosable disease or psychiatric condition.

Although little is known concerning the pathophysiology of aggression and behavioural disturbance it has been observed that there is considerable inter-personal variation in the likelihood, threshold and magnitude of aggression or behavioural disturbance even in persons suffering from the same clinical condition or experiencing the same social or economic conditions.

It will be appreciated by those skilled in the art that a diagnosis of aggressive behaviours or behavioural disturbances can be made according to recognised criteria (e. g. BEHAVAD).

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION BEHAVIOURAL DISTURBANCE GENE LIST HUGO gene Protein symbol function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E 4-hydroxyphenylpyruvate dioxygenase HPD E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E alpha-synuclein SNCA N Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Androgen binding protein ABP T Androgen receptor AR G Apolipoprotein E APOE T Arginosuccinate synthetase ASS E Ataxia telangiectasia gene, AT ATM G beta-synuclein SNCB N Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cannabinoid receptor CNR1 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E alphaCA1ECarbonicanhydrase, Carbonic anhydrase, beta CA2 E Catechol-O-methyltransferase COMT E Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N <BR> <BR> Choline acetyltransferase CHAT E Ciliary neurotrophic factor (CNTF) CNTF G Ciliary neurotrophic factor (CNTF) receptor CNTFR G Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Cryptochrome 1 CRY1 S CRY2SCryptochrome2 Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP-dependent protein kinase PKA E Cyclooxygenase ECOX1 Cyclooxygenase 2COX2E ECYP11A1CYP11A1 <BR> <BR> <BR> CYP11B1 CYP11B1 E ECYP11B2CYP11B2 <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> <BR> <BR> CYP19 CYP19 E ECYP1A1CYP1A1 <BR> <BR> <BR> CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E ECYP2A13CYP2A13 CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E<BR> <BR> <BR> <BR> CYP4Bl CYP4Bl E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Dihydrolipoamide branched chain transacylase DBT N Dopamine beta hydroxylase DBH E Dopamine receptors D1DRD1N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Doublecortin, DCX DCX S Enolase EN01 E Flightless-II, Drosophila homolog of FLII G Fragile site, folic acid type, rare, fra (X) A FRAXA N Fragile site, folic acid type, rare, fra (X) E FRAXE N Fragile site, folic acid type, rare, fra (X) F FRAXF N GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N Galactose 1-phosphate uridyl-transferase GALT E Geniospasm 1 GSM1 G Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E <BR> <BR> Glyceraldehyde-3-phosphatedehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase GM2 ganglioside activator protein, GM2A GM2A E Gustducin, alpha (taste-specific G protein) GDCA N Inositol monophosphatase IMPA1 N IP3 kinase E Mannosidase, beta A lysosomal MANBA E Melatonin receptor 1 A MTNR1 A N Melatonin receptor 1B MTNR1B N Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N N-acetylglucosamine-6-sulfatase GNS E NADPH-dependent cytochrome P450 POR E reductase Neurokinin A NKNA N NeurokininB NKNB N <BR> <BR> <BR> NeuropeptideYNPYN Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Ocular albinism 1 OA1 S Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N <BR> <BR> Orexin OX G Orexin 1 GOX1R Orexin 2 receptor OX2R G Phosphoglycerate kinase 1 PGK1 E Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Preproenkephalin PENK N Preproglucagon GCG; GLP1; GLP2 G Prion protein PRNP N Proline dehydrogenase PRODH E Pro-melanin-concentrating hormone PMCH G Proopiomelanocortin POMC N Purine nucleoside phosphorylase NP E RIGUI RIGUI G Serotonin N-acetyltransferase SNAT E Serotoninreceptor, NHTR1A Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, NHTR5 Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaiine), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 &1bSYN1NSynapsin1a Synapsin 2a & 2b SYN2 N Synaptogyrin N Synaptophysin SYP N Synaptosomal-associated protein, 25KD SNAP25 N Syntaxin 1 STX1 N Tachykinin receptor, NK1 R TACR1 N Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N Tau protein MAPT S Tryptophan hydroxylase TPH E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin B UBB G Ubiquitin C UBC G UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N In a fifth aspect.

BRAIN INJURY The present invention relates to a method of assessing the consequences and complications and the many symptoms arising as a result of sustaining brain damage.

The brain is one of the most complex organs in the body. Composed of nerve and support cells it is the substrate for cognition, behaviour and the formulation and execution of planned actions. The constant activity of brain cells ensures that the brain is one of the most energy and oxygen dependant organs in the body. Interruptions to the flow of oxygen or nutrients even for brief periods can result in damage to cells and long fibre tracts. Furthermore, the physical structure of the brain within the skull can also lead to vulnerability to damage. The brain is suspended in cerebro-spinal fluid (CSF), enclosed in a fixed rigidly confined space, the skull, and its closely applied tough, inelastic connective tissue, the dura matter. As such the finite space within the brain case has significant consequences for brain function when events occur which result in the available space being occupied by for example, tumour growth, or the accumulation of blood following a traumatic injury.

Hypoxia and Ischemic Lesions: The brain is very sensitive both to global (hypoxia) and local (ischemia) reductions in blood and oxygen supply. Although the term's hypoxia and ischemia are used interchangeably, these conditions have different pathophysiology and consequences.

* Hypoxia: the blood flow to the CNS may be entirely normal or even increased.

The greatest damage is caused in certain populations of neurones that are particularly vulnerable to hypoxia.

* Local brain ischemia: usually due to arterial stenosis or occlusion, any infarction is within the perfusion territory of the affected artery.

* Global brain ischemia: usually occurs when systemic blood pressure falls very low. Examples of causes include; cardiac tamponade, heroin overdose or intracranial pressure rises to a level that restricts perfusion of the brain e. g. after a head injury.

In practice, many causes of hypoxia (e. g. respiratory arrest or carbon monoxide poisoning) also depress cardiac output and so produce a combination of hypoxic and global ischemic brain injury. Common causes of hypoxia are, carbon monoxide poisoning, near drowning, respiratory arrest or prolonged status epilepticus. Common causes of ischaemia are cardiac arrest with prolonged asystole, hypotension due to myocardial infarction, cardiac tamponade, or major cardiac dysrhythmia, intraoperative hypotensive episode (s) or severe increases in intracranical pressure (Ellison D., Love S. et al, 1998).

Vascular Disease and Infarcts.

An infarct is defined as an area in the brain tissue in which all cellular elements undergo necrosis (cell death), usually as a result of a cessation of flow of oxygenated blood to the region.

The clinical term'stroke'describes a syndrome of sudden onset, non-epileptic, neurologic deficit that lasts more than 24 hours. Stroke has come to mean either brain infarction or haemorrhage.

Infarcts can be caused by: * Large vessel or macrovascular (arterial) disease * Small vessel or microvascular (arterial) disease * Emboli * Venus thrombosis Strokes are worldwide in distribution and are common in the elderly, killing 150,000 Americans, making it the third leading cause of death in the USA. Twenty percent of strokes are haemorragic, resulting in bleeding into the brain. Ischaemic strokes, occurring when blood clots obstruct blood flow in vessels supplying blood to the brain, account for the remainder (Gunel M. and Lifton R. P, 1996).

Atherosclerosis is by far the leading systemic vasculopathy that produces brain infarcts, especially in older patients. It can affect both intracranial and extracranial large arteries. The major risk factors for Atherosclerosis include: age, family history, diabetes mellitus, cigarette smoking, hypertension and obesity.

Other large vessel diseases include; fibromuscular dysplasia (FMD), Moyamya disease, arterial dissection, HIV associated arteriopathies, cerebrovascular disease associated with antiphospholipid antibodies, angiitis and vascular affecting large arteries, giant cell arteritis and Takayasu's arteritis.

Small vessels in the brain can also be affected by arteriosclerosis, lipohyalinosis and amyloid angiopathy.

An'embolic'stroke may result when any solid material forms within the arterial circulation, is introduced into the arterial circulation or forms in the venous circulation. Sources of brain emboli include atheroma, cardiogenic emboli (associated with cardiac pathology particularly in young people who are relatively free of Atherosclerosis), fat (often associated with fractures of long bones or the pelvis), neoplasm's and parasites or iatrogenic causes (e. g. air embolism can occur in decompression sickness and cardiac bypass surgery).

Cerebral venous thrombosis (CVT) is a much less common cause of stroke than arterial disease and causes include: infections (either intracranial or in adjacent facial and bony structures), head injury, neurosurgical procedures and neoplasm's.

The main causes of infarcts are mentioned above but twenty percent of strokes are haemorragic. The intracranial haemorrhage that occurs is the extravasation of blood into brain substance. Conditions associated with brain haemorrhage are; hypertension, trauma, cerebral amyloid angiopathy, berry aneurysm, vascular malformations, bleeding diathesis, illicit drug use, neoplasm's, infection and adverse events following drug or surgical interventions Trauma: Head injury, whether accidental, criminal, or suicidal, is the leading cause of death in people less than 45 years of age in developed countries. In the USA, an estimated 700,000 individuals each year sustain a severe head injury. Improvements in the acute management of trauma have led to an increase in the number of disabled survivors.

There are two main categories of head injury type, these are; non-missile or blunt head injury (the most common that is seen clinically) and missile head injury. The lesions that result can be divided according to their distribution i. e. focal or diffuse.

Focal lesions of the brain may lead to contusions, lacerations, haemorrhage or infection.

Diffuse brain damage is accounted for by the phenomena of diffuse axonal injury, diffuse vascular injury, raised intracranial pressure and ischaemic damage.

Particular groups of neurones or cells may be vulnerable to the additional processes of necrosis or apoptosis as a result of the pathological processes set in train by the brain injury.

Infection and Degeneration Each of the above types of damage can also be caused by infections (e. g. HIV, rabies, prion disease, malarial parasites) or degenerative disease (e. g. Huntington chorea, Parkinson's disease, multiple sclerosis, dementia's).

CONSEQUENCES OF BRAIN INJURY Brain damage due to disease or injury causes a range of reactions at a cellular level; neurone death, axonal degeneration, nuclear inclusions, neuronal cytoplasmic inclusions, structural abnormalities of axons, pathologic responses in astrocytes and microglia, inclusions in ependymal cells and choroid plexus epithelium and brain mineralization.

The long-term effects of brain injury result from the very limited capacity for repair and regrowth of these brain structures and the location and extent of the injury.

Necrosis of several cubic centimetres of brain tissue may be clinically silent in the frontal lobe, severely disabling in the spinal cord, or fatal in the brain stem. The magnitude and distribution of the traumatic brain lesion obviously depend on the shape of the object causing the trauma, the force of the impact, and whether the head is in motion at the time of injury. Severe brain damage can occur in the absence of external signs of head injury, and conversely, severe lacerations and even skull fractures do not necessarily indicate damage to the underlying brain.

Brain injury is a very variable clinical entity and whilst many patients can make a good recovery from moderate head injuries or strokes a degree of residual deficit is common.

The actual range of deficits is very wide and encompasses a series of debilitating symptoms such as epilepsy, paralysis, blindness, deafness, dementia, psychiatric or behavioural disturbances, personality and IQ changes to a persistent vegetative state (Gelder et al 1996, Lishman 1997). In addition the presence of a previous injury can confer additional vulnerabilities to the brain function of a person should they sustain experience any future incident of brain damage whether due to disease, trauma, infection or developmental anomaly.

Recent advances in neuroscience have begun to highlight new therapeutic approaches to treating brain injury. Treatment of ischaemic stroke with thrombolytic agents has recently showed modest benefit, but it underscores the importance of disease prevention for long term reduction in morbidity and mortality. The importance of hypertension in stoke pathogenesis has been shown by large prospective trials, demonstrating that treatment of hypertension reduces the risk of stroke by 40% (MacMahon et al., 1990). These observations raise the possibility that genetic predisposition may be important in the pathogenesis if stroke. Such predisposition may not only include genes contributing to elevated blood pressure but also genes acting independently of blood pressure.

Due to extremely limited regeneration of this tissue, long term clinical improvement following a stroke is minimal, commonly leaving stroke survivors with life-long disability. This high toll has a large economic and social impact on public health, with an estimated annual cost of stroke in the USA of $30 billion.

More recent developments have included the concept of neuroprotection in the treatment of acute or chronic neurological disorders. An example of this is the research into glutamate, which suggests that raised levels of glutamate in the brain is potential neurotoxic and that glutamate antagonists can be neuroprotective. Many glutamate antagonists are currently under clinical evaluation in the treatment of stroke, head or spinal cord injury. Unfortunately, most of them currently have serious, largely behavioural side effects.

Side effects of treatments given for brain injury are of course undesirable, as in the case of glutamate antagonists, but more effective treatment will only become available when an understanding of the processes of brain damage and affect it has on the individual becomes clearer.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION BRAIN INJURY GENE LIST HUGO symbol Protein function 2,3-bisphosphoglycerate mutase BPGM E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 4-hydroxyphenylpyruvatedioxygenase HPD E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) 6-pyruvoyltetrahydropterin synthase PTS E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyl CoA acyltransferase ACAA E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Adducin, alpha ADD1 S Adducin, beta ADD2 S Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T Aldehyde dehydrogenase 10 ALDH10 E Aldosterone receptor MLR G Alpha 1 acid glycoprotein AAG; AGP T Alpha 2 IA2M alpha thalassemia gene ATRX N <BR> <BR> alphal-antitrypsin Pi E<BR> <BR> <BR> <BR> <BR> a!pha2-antip!asminPL!E alpha-synuclein SNCA N <BR> <BR> AminomethyitransferaseAMTE Aminopeptidase P XPNPEP2 E Amyloid beta (A4) precursor protein-binding, APBB1 N APBB1 Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Annexin 1 ANX1 I Antidiuretic hormone receptor ADHR T <BR> <BR> Antithrombin III AT3 E Apolipoprotein A I APOA1 T IIAPOA2TApolipoproteinA Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Apoptosis antigen 1 APT1 I Arginase ARG1 E Arginine vasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1B N Arginine vasopressin receptor 2 AVPR2 N Arginosuccinate lyase ASL E Arginosuccinate synthetase ASS E <BR> <BR> ArylsulfataseA ARSA E Arylsulfatase D ARSD E Arylsulfatase E ARSE E Arylsulfatase F ARSF E Aspartoacylase ASPA E Ataxia telangiectasia gene, AT ATM G Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atriai natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G beta-synuclein SNCB N Bleomycin hydrolase BLMH E Bradykinin receptor B1 I Bradykinin receptor B2 I Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor Butyrylcholinesterase BCHE E Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G Calcineurin A1 CALNA1 I Calcineurin A2 CALNA2 I Calcineurin A3 CALNA3 I Calcineurin B I Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha CACNA1 F N 1 F subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1 C N 1C Calcium channel, voltage-dependent, Alpha- CACNA1D N <BR> <BR> 1D<BR> <BR> <BR> <BR> Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1 S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependantprotein kinase 11 CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Calretinin CALB2 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E <BR> <BR> Carbonic anhydrase, beta CA2 E Cardiac-specific homeobox, GCSX Carnosinase N <BR> <BR> <BR> Caspase 1 CASP1 G<BR> <BR> <BR> <BR> <BR> <BR> Caspase 10 CASP10 G Caspase 2 CASP2 G Caspase 3 CASP3 G Caspase 4 CASP4 G CASP5GCaspase5 Caspase 6 CASP6 G Caspase 7 CASP7 G Caspase 8 CASP8 G Caspase 9 CASP9 G <BR> <BR> Catechol-O-methyltransferase COMT E<BR> <BR> <BR> <BR> <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> <BR> <BR> CD4 CD4 I Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-LECAM1 G endothelial, LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G Ceroid lipofuscinosis neuronal 2 CLN2 N Ceroid lipofuscinosis neuronal 3 CLN3 N Ceroid lipofuscinosis neuronal 4 CLN4 N Ceroid lipofuscinosis neuronal 5 CLN5 N Ceroid lipofuscinosis neuronal 6 CLN6 N Chemokine receptor CXCR4 CXCR4 I Choline acetyltransferase CHAT E Chymotrypsinogen E Cockayne syndrome gene, CKN 1 CKN 1 G <BR> <BR> Cofilin S Collagen I alpha 1 COL1A1 S <BR> <BR> Coliagen I alpha2 COL1A2 S Collage il alpha 1 COL2A1 S Collage III alpha 1 COL3A1 S Collagen IValpha 1 COL4A1 S alpha2COL4A2SCollagenIV Collagen 3COL4A3Salpha Collagen 4COL4A4Salpha Collagen 5COL4A5Salpha alpha6COL4A6SCollagenIV Collagen IX alpha 2 COL9A2, EDM2 S Collagen 3COL9A3Salpha <BR> <BR> Collagen receptor COLR S Collagen 1COL5A1Salpha Collagen V alpha 2 COL5A2 S alpha1COL6A1SCollagenVI alpha2COL6A2SCollagenVI Collagen VI alpha 3 COL6A3 S Collages VII alpha 1 COL7A1 S Collagen X alpha 1 COL10A1 S Collagen X alpha 1 COL11A1 S <BR> <BR> Collagen XI alpha 2 COL11A2 S Collagen XVII alpha 1 COL17A1 S Corticotrophin-releasinghormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Creb binding protein CREBBP G Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP-dependent protein kinase PKA E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E <BR> <BR> Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclooxygenase COX1 Cyclooxygenase 2 COX2 E <BR> <BR> CYP11A1 CYP11A1 E CYP11B1CYP11B1E <BR> <BR> CYP11 B2 CYP11 B2 E<BR> <BR> <BR> <BR> <BR> CYP17 CYP17 E ECYP19CYP19 ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystatin B CSTB T Cystatin C CST3 T Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive CSBP1Idrug- binding protein 1 <BR> <BR> Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 DAX1nuclear receptor DAX1 Deleted in malignant brain tumours 1 DMBT1 G Delta-7-dehydrocholesterol reductase DHCR7 E Dihydrolipoamide branched chain DBT N <BR> <BR> transacylase<BR> <BR> <BR> <BR> Dihydroxyacetonephosphate acyltransferase DHAPAT E Dopamine beta hydroxylase DBH E Dopamine rceptors NDRD1 Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Dystonia 9 CSE S Dystrophia myotonica DM, DMPK E Dystrophia myotonica, atypical DM2 E <BR> <BR> Dystrophin DMD S Ectodermal Dysplasia 1 gene ED1 S Empty spiracles (drosophila) homologue 1 EMX1 G Empty spiracles (drosophila) homologue 2 EMX2 G Endothelin 1 EDN1 N Endothelin 2 EDN2 N <BR> <BR> <BR> Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptortype B EDNRB N <BR> <BR> Enolase EN01 E Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Epilepsy, benign neonatal 4 gene ICCA E Epilepsy, female restricted EFMR E Epilepsy, progressive geneEPM2AE2 Excision repair complementation group 4 ERCC4 E protein Factor 1 (No. one) F1 I Factor III F3 I Factor IX F9 I Factor IF5 Factor IF7 Factor VI I I F8 I Factor IF10 Factor IF11 Factor XII F12 I FactorFactorXIII A F13A&F13BIB Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen gamma FGG S Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Flightless-II, Drosophila homolog of FLII G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Formiminotransferase E Fragile site, folic acid type, rare, fra (X) A FRAXA N Fragile site, folic acid type, rare, fra (X) E FRAXE N Fragile site, folic acid type, rare, fra (X) F FRAXF N Frataxin FRDA G Fukuyama type congenital muscular FCMD G dystrophy Fumarase FH E GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABA transaminase ABAT E Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1, 3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G <BR> <BR> Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyltransferase 1 GGT1 T Gastric Intrinsic factor, GIF GIF E GDP dissociation inhibitor 1 GD11 G Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glioma chloride ion channel, GCC G Glutamate decarboxylase, GAD GAD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutaryl-CoA dehydrogenase GCDH E <BR> <BR> Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E Glutathione synthetase GSS E <BR> <BR> Glyceraldehyde-3-phosphate GAPDH E dehydrogenase, GAPDH Glyceroi kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine dehydrogenase GLDC E GM2 ganglioside activator protein, GM2A GM2A E Gonadotropin releasing hormone receptor GNRHR G GTP cylcohydrolase 1 GCH1 G Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanylate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylyl cyclase E Haeme regulated inhibitor kinase E Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G Heparin Cofactor 11 HCF2 I Hepatic lipase LIPC E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N Histidase E HLA-B associated transcript 1 BAT1 I HMGCREHMG-CoAreductase Holocarboxylase synthetase HLCS E Holoprosencephaly 1 HPE1 G Holoprosencephaly 2 HPE2 G Holoprosencephaly 3 HPE3 G Holoprosencephaly 4 HPE4 G Hypoxia induciblefactor 1 HIF1A E Hypoxia inducible factor 2 E <BR> <BR> IC7 A and B I Inositol 1,4,5-triphosphate receptor 1 ITPR1 G Inositol monophosphatase IMPA1 N Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G 4ITGB4GIntegrinbeta Integrin beta 5 ITGB5 G Integrin beta 6 ITGB6 G tntegrin beta 7 ITGB7 G tntegrin, alpha 1 ITGA1 G tntegrin, alpha 2 ITGA2 G Integrin, alpha 3 ITGA3 G ITGA4GIntegrin,alpha4 5ITGA5GIntegrin,alpha Integrin, alpha 6 ITGA6 G Integrin, alpha 7 ITGA7 G Integrin, alpha 8 ITGA8 G Integrin, alpha 9 ITGA9 G Integrin, alpha M ITGAM G Integrin, alpha X ITGAX G Inter-alpha-trypsin inhibitor, IATI E Interleukin (IL) 1 receptor IL1 R I Interleukin(IL) 1, IIL1A betaIL1BIInterleukin(IL)1, IL10IInterleukin(IL)10 receptorIL10RIInterleukin(IL)10 IL11IInterleukin(IL)11 receptorIL11RIInterieukin(IL)11 IL12IInterieukin(IL)12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 Interleukin (IL) 13 receptor IL13R I IL2IInterleukin(IL)2 Interleukin (IL) 2 receptor, alpha IL2RA I Interieukin (IL) 2 receptor, gamma IL2RG I Interleukin (IL) 3 IL3 I Interleukin (IL) 3 receptor IL3R I IL4IInterleukin(IL)4 Interleukin (IL) 4 receptor IL4R I Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R I IL7IInterleukin(IL)7 receptorIL7RIInterleukin(IL)7 IL8IInterleukin(IL)8 receptiorIL8RIInterleukin(IL)8 <BR> <BR> Interleukin (IL) 9 IL9 I receptorIL9RIInterleukin(IL)9 Interleukin (lL) receptor antagonist 1 IL1 RN, IL1 RA I IP3 kinase E Kallikrein 3 KAK3 I Kininogen, High molecular weight KNG I Kynureninease E Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta LTBP2 G binding protein 2 Leptin LEP G Leptin receptor LEPR G Leukin I Leukocyte-specific transcript ILST-1 Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor I LIM homeobox protein 1 LHX1 G LIM-Kinase I (LINK-!) I Lipocortin IANX4 Lipoprotein lipase LPL I Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Intermediate Density T Lipoprotein, Low Density 1 T Lipoprotein, Low Density 2 T Lipoprotein, Very Low Density VLDLR T <BR> <BR> Lipoprotein-associated coagulationfactor LACI Low density lipoprotein receptor-related LRP T protein precursor Lymphoid enhancer-binding factor LEF-1 G MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 Malonyl CoA decarboxylase E Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E Methionine synthase MTR E <BR> <BR> Methylmalonyl-CoA mutase MUT E Mevalonate kinase MVK E Mismatch repair gene, PMSL2 PMS2 G Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Mucolipidoses GNPTA E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myelin basic protein S <BR> <BR> N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E NADPH-dependent cytochrome P450 POR E reductase NB6 I Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neurite inhibitory protein N Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurofilament protein, NF125 NF150 S Neurofilament protein, NF200 NF200 S Neurofilamentprotein, NF68 NF68 S Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Notch 3 NOTCH3 G Notch ligand-jagged 1 JAG1, AGS G Nuclear factor 1-kappa-B-like gene IKBL I Nucleoside diphosphate kinase-A NDPKA E Oncogene bcl2 G Oncogene sis PDGFB G Ornithine delta-aminotransferase OAT E Ornithine transcarbamoylase OTC, NME1 E Orthodenticle (Drosophila) homolog 1 OTX1 G Orthodenticle (Drosophila) homolog 2 OTX2 G Patched (Drosophila) homolog, PTCH PTCH G Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome receptor 1 PXR1 T Persyn S Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phospholipase A2, group 10 PLA2G10 I Phospholipase A2, group 1B PLA2G1B I Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 Phospholipase A2, group 6 PLA2G6 Phospholipase C alpha I <BR> <BR> Phospholipase C beta I Phospholipase C delta PLCD1 Phospholipase C epsilon I Phospholipase C gamma PLCG1 Phosphomannomutase 2 PMM2 G Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PAI2 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA ; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Platelet glycoprotein 1 b, alpha GP1BA I Platelet glycoprotein 1 b, beta GP1 BB I Platelet glycoprotein 1 b, gamma GP1 BG I <BR> <BR> Platelet glycoprotein IX GP9 I Platelet glycoprotein V GP5 I <BR> <BR> Platelet-activating factor acetylhydrolase 1B PAFAH1B1 or I LIS1 Platelet-activating factor acetylhydrolase 2 PAFAH2 I Platelet-activating factor receptor PAFR I Plectin 1 PLEC1 T Polycystin 1 PKD1 T Polycystin 2 PKD2 T Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N POU domain, class 1, transcription factor 1POU1 F1 G (Pit1) Prekallikrein Prion protein PRNP N Procollagen N-protease E Proline dehydrogenase PRODH E Proopiomelanocortin POMC N Prostacyclin synthase I Prostaglandin 15-OH dehydrogenase HGPD; PGDH I Prostaglandin D-DP receptor I <BR> <BR> Prostaglandin E1 receptor I<BR> <BR> <BR> <BR> Prostaglandin E2 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E3 receptor I<BR> <BR> <BR> <BR> Prostaglandin F-FP receptor I Prostaglandin 12 receptor T Prostaglandin IP receptor I Protective protein for beta-galactosidase PPGB E Protein C PROC I Protein C inhibitor PCI I Protein kinase C, alpha PRKCA E Protein kinase C, gamma PRKCG E Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1 R3 E subunit 3 Protein S PROS1 I Prothrombin precursor F2 I Purine nucleoside phosphorylase NP E Pyrroline-5-carboxylate synthetase PYCS E Pyruvate carboxylase PC E Ras-G-protein RAS G Renin REN E Replication factor C RFC2 E RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N Secretase, alpha N Secretase, beta N Secretase, gamma N Selectin E SELE N Selectin L SELL N Selectin P SELP N Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solutecarrierfamily1 (glutamate SLC1A1 T transporter), member 1 Solute carrier family 1 (glutamate SLC1A2 T transporter), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 20, member 3 SLC20A3 T Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 7 (amino acid SLC7A1 T transporter), member 1 Solute carrier family 7 (amino acid SLC7A2 T transporter), member 2 Solute carrier family 7 (amino acid SLC7A7 T transporter), member 7 Sphingomyelinase SMPD1 E Spinocerebellar ataxia 8 gene SCA8 N Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Substance P N Succinic semi-aldehyde dehydrogenase ssadh E Sulfamidase SGSH G Sulfite oxidase SUOX E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfeit 1 SURF1 G <BR> <BR> Synapsin1a&1bSYN1N Synapsin 2a & 2b SYN2 N Synaptic vesicle amine transporter SVAT N Synaptobrevin 1 SYB1 N Synaptobrevin 2 SYB2 N <BR> <BR> SynaptogyrinN Synaptophysin SYP N Synaptotagmin 1 SYT1 N Synaptotagmin 2 SYT2 N Syntaxin 1 STX1 N Talin TLN G Tau protein MAPT S TEK, tyrosine kinase, endothelial TEK E Telomerase protein component E Thrombin receptor F2R I Thrombopoietin THPO G Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 I <BR> <BR> Thromboxane A2 receptor TBXA2R I Thyroxin-binding globulin TBG T Topoisomerase I E Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta receptor 2 TGFBR2 G Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tumour necrosis factor (TNF) receptor TRAF1 associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 I associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 I associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 I associated factor 4 <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF5 ! associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 <BR> <BR> Tumour necrosis factor alpha TNFA ! Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tyrosine aminotransferase TAT E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin B UBB G Ubiquitin C UBC G Ubiquitin carboxyl-terminal esterase L1 UCHL1 G UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Undulin 1 COL14A1 S <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Uroporphyrinogen III synthase UROS E Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Von Hippel-Lindau gene VHL G Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Xanthine dehydrogenase XDH E Zinc finger protein 2 ZIC2 S In a sixth aspect.

DEMENTIA The present invention relates to a method of assessing the risk of developing the degenerative processes and multiplicity of symptoms associated with dementia and dementing disorders.

Dementia and the associated non-cognitive symptomatology is a serious and growing problem. It affects 5% of people aged over 65 and 20% of those over 80. Changing demographics mean that the number of people affected by dementia is set to rise by 2- 3% a year so that numbers of sufferers by the year 2020 will rise from 650,000 to 850,000 in the UK and from 3,000,000 to 5,000,000 in the USA.

Dementia is defined as a chronic generalised impairment of psychological functions.

The characteristic feature of clinical impairment is a generalised cognitive impairment but there are significant changes in behaviour and mood the whole of which give a complex syndrome with considerable variation in the degree and type of symptomatology from patient to patient.

Dementia has been defined as a disease of the brain in which there is disturbance of intellectual functioning, usually of a chronic or progressive nature, with a compromising effect on at least three of the following: * Memory * Langage Visual and spatial skills 'motion or personality 'Cognition.

The complex nature of the symptoms and their variability in different patients provide significant challenges for the effective clinical and psychological management of patients (Roberts et al 1993, Youdofsky and hales 1994, Gelder et al 1996, Lishman 1997) Youdofsky.

The causes of and molecular pathologies occuring in the processes leading to dementia are numerous-including such direct causes as Alzheimer's disease, prion disease, frontal lobe dementia, Lewy body disease, ischaemic brain injury, cerebrovascular disease, stroke, infection and head injury (Roberts et al 1993, Fig 1 a and b) or as adverse events following the use of drugs or surgical procedures (Walton, 1993, Roberts 1993, Gelsder et al 1996, Lishman, 1997, Brody. Lamer and Minneman 1998).

Causes of dementia Dementia has been related to many causes and conditions: Degenerative brain diseases Vascular disease * Space-occupying lesions * Trauma * Infection * Epilepsy * Metabolic disease * Endocrine dysfunction * Autoimmune disease * Toxicity * Vitamin deficiency.

Recently significant advances have been made in the understanding of the molecular pathology underlying many of the dementing disorders. Neurotransmitter defecits have been described and the key proteins involved in the disorders have been identified (e. g. amyloid precursor protein, presenilinl and 2, prion protein, tau protein and alpha-synuclein). Treatments designed to slow down the neuronal loss characteristic of dementia are becoming available. Furthermore, drug therapies that target the essential processes that result in dementia are in development and offer hope of a preventive therapeutic approach in the future.

All these advances are expected to complicate the process of clinical management in order to ensure that the most efficacious treatments are provided at the appropriate time to the individuals who will benefit most.

The clinical challenge is to identify patients with early signs of dementia and refer them promptly so that a more accurate diagnosis of the specific type of dementia can be made while the illness is still in its infancy. Other than in patients with a strong family background of disease, the diagnostic process is generally one of exclusion; Alzheimer's disease Alzheimer's disease (AD) is the most common form of dementia accounting for nearly 50% of cases. AD is defined as the development of multiple cognitive deficits manifest by both memory impairment and one or more of the following: * langage impairment * loss of visual and spatial skills impairment of recognition functions * disturbance of executive functioning.

The cognitive deficits lead to significant impairment in social and occupational functioning and are represented by a significant decline from previous levels of functioning. The course of AD is characterized by gradual onset and continuing cognitive decline.

To confirm a diagnosis of AD, the following must be excluded: * Other CNS conditions that can cause progressive deficit of memory and cognition (vascular disease, Parkinson's disease, Huntington's disease, subdural haematoma, normal pressure hydrocephalus, brain tumour, etc) * Systemic conditions that are known to cause dementia (hypothyroidism, B, 2 or folate deficiency, hypercalcaemia, neurosyphilis, HIV, etc) * Substance or toxin-induced conditions.

In addition, the deficits must not occur exclusively during the course of a delirium and the disturbance must not be better accounted for by another psychiatric disorder.

Vascular dementia Vascular dementia is the only major cause of dementia that is both treatable and preventable. Identification and prompt treatment are therefore especially important.

Pure vascular disease accounts for at least 20% of dementias and plays a contributary role in a further 20%. Almost any cause of cerebrovascular disease may result in dementia if sufficient cortex is infarcted and/or cerebral blood flow is substantially reduced.

Diagnosis of vascular dementia is a three-stage process. First, the dementia syndrome has to be confirmed, and then the cerebrovascular disease diagnosed. Finally, the relationship between the two needs to be identified. Characteristics of vascular dementia include: * Onset of dementia within three months of a stroke * History of abrupt cognitive decline * Fluctuating mental changes, with forgetfulness, impaired concentration, emotional lability and slowness of thought * Confused episodes.

There may also be: * Small-stepped, wide-based gait (marche a petit pas) * Pseudobulbar palsy * Pyramidal signs * Urinary incontinence * Cogwheel rigidity * Impaired eye movement.

One feature that helps to distinguish vascular dementia from AD is that blood pressure is usually raised in the former. However, falls in blood pressure are also associated with vascular dementia.

Once a diagnosis and prognosis has been made, the clinician must co-ordinate the appropriate care services, deliver treatment as necessary and ensure carers are well supported.

The process of determining a prognosis and thus a care plan for an individual patient is made difficult by the number of non-cognitive symptoms seen in dementing disorders.

Prognosis and management of the non-cognitive aspects of dementia Non-cognitive symptoms are extremely common. Almost all patients experience at one or more of these symptoms during their illness. The difficulty lies in the very limited ability to prognose or predict which symptom is likely to be a problem in which patient. Without treatment, non-cognitive symptoms can increase patient suffering and the burden on carers. They can also lead to premature institutionalization and significant financial costs to the community. Because they are treatable, it is imperative to recognise the non-cognitive symptoms of dementia and deliver prompt treatment.

Appropriate drug treatment can be efficacious but requires monitoring to avoid the possibility that it might worsen symptoms and induce side-effects (Gelder et al 1996, Lishman 1997, Brody, Lamer and Minneman, 1998).

If symptoms are very troublesome a combination of drugs may be best. As the non- cognitive symptoms of dementia fluctuate throughout the course of the disease it is essential to assess patients regularly to ensure efficacious therapeutic interventions.

Non-cognitive symptoms in dementia and common therapeutic interventions * Depression-antidepressants (selective serotonergic reuptake inhibitors, tricyclic anti-depressants).

* Psychosis-antipsychotics * Affective changes-antidepressants.

* Agitation-antipsychotics, benzodiazepines, antidepressants, beta-blockers * Wandering-behavioural therapy or assess safety risk (often low in residential homes) and allow wandering * Stereotypies-antipsychotics * Aggression-antipsychotics, sulpiride and selective serotonin reuptake inhibitors, cholinergic agonists.

* Sleep disturbance-tranquillisers, behavioural therapy.

Incontinence-identify the cause and treat it.

* Behavioural disturbance-behavioural therapy, benperidol.

Caring for patients The aim of therapeutic interventions in patients with dementia generally is to keep them in the community for as long as possible with as good a quality of life as possible. This will involve generating an accurate prognosis for the individual patient and coordinating clinical management, therapeutic interventions and monitoring with social support services for both patient and carer.

This ideal is rarely met in practice because of the difficulties involved in generating an accurate clinical prognosis. This failure is due to the complex pathological processes involved in degeneration taking place in the brain and the multi-dimensional nature of the cognitive and non-cognitive symptoms which occur in patients with dementia.

The individual variability in disease progression, symptomatology, response to therapy and adverse events resulting from therapeutic intervention lies at the heart of the difficulties experienced in the clinical management of dementia.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION DEMENTIA GENE LIST HUGO gene Protein symbol function 2,3-bisphosphogiycerate mutase BPGM E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Adducin, alpha ADD1 S Adducin, beta ADD2 S Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylatecyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylatecyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T Aldosterone receptor MLR G <BR> <BR> Alpha 2 macroglobulin A2M I<BR> <BR> <BR> <BR> <BR> alpha1-antitrypsin PI E alpha2-antiplasmin PLI E alpha-synuclein SNCA N Aminopeptidase P XPNPEP2 E Amyloid beta (A4) precursor protein-binding, APBB1 N APBB1 Amyloidbeta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E Apolipoprotein A I APOA1 T Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Apoptosis antigen 1 APT1 I <BR> <BR> Arginase ARG 1 E Argininevasopressin AVP N Arginine vasopressin receptor 1A AVPR N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Arginosuccinate lyase ASL E Arginosuccinate synthetase ASS E Ataxia telangiectasia gene, AT ATM G ATP/ADP translocase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G <BR> <BR> Atrial natriuretic peptide receptor B NPR2 G Atrialnatriuretic peptide receptor C NPR3 G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G beta-synuclein SNCB N Bleomycin hydrolase BLMH E Bradykinin receptor B1 I Bradykinin receptor B2 I Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor Butyrylcholinesterase BCHE E Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G Calcineurin A1 CALNA1 <BR> <BR> Calcineurin A2 CALNA2 I<BR> <BR> <BR> <BR> Calcineurin A3 CALNA3 I Calcineurin B I Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) voltage-dependent,Alpha-CACNA1CNCalciumchannel, 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Calretinin CALB2 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Cardiac-specific homeobox, CSX CSX G Caspase 1 CASP1 G Caspase 10 CASP10 G<BR> <BR> <BR> <BR> <BR> Caspase 2 CASP2 G Caspase 3 CASP3 G <BR> <BR> Caspase 4 CASP4 G<BR> <BR> <BR> <BR> <BR> Caspase 5 CASP5 G<BR> <BR> <BR> <BR> <BR> <BR> Caspase 6 CASP6 G Caspase 7 CASP7 G <BR> <BR> Caspase 8 CASP8 G Caspase 9 CASP9 G <BR> <BR> Catechol-O-methyltransferase COMT E<BR> <BR> <BR> <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> <BR> CD4 CD4 I Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-endothelial, LECAM1 G LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G Chemokine receptor CXCR4 CXCR4 I Choline ECHAT Chymotrypsinogen E Cockayne syndrome gene, CKN1 CKN1 G <BR> <BR> Cofilin S Collagen I alpha 1 COL1A1 S Collagen I alpha2 COL1A2 S alpha1COL2A1SCollagenII <BR> <BR> Collagen III alpha 1 COL3A1 S Collagen 1COL4A1Salpha <BR> <BR> Collagen IV alpha 2 COL4A2 S alpha3COL4A3SCollagenIV Collagen IV alpha4 COL4A4 S Collagen IValpha 5 COL4A5 S Collagen 6COL4A6Salpha Collagen IX alpha 2 COL9A2, EDM2 S <BR> <BR> Collagen IX alpha 3 COL9A3 S Collagen receptor COLR S CollagenV alpha 1 COL5A1 S Collagen V alpha 2 COL5A2 S Collagen VI alpha 1 COL6A1 S Collagen VI alpha 2 COL6A2 S Collagen VI alpha 3 COL6A3 S <BR> <BR> Collagen VII alpha 1 COL7A1 S alpha1COL10A1SCollagenX alpha1COL11A1SCollagenX alpha2COL11A2SCollagenX1 Collagen iagenXVNa)pha1COL17A1S Corticotrophin-releasing hormoneCRHT <BR> <BR> Corticotrophin-re!easinghormonereceptorCRHR1T Cu2+ transporting ATPase beta polypeptide ATP7BE <BR> <BR> CydicAMP-dependentproteinkinasePKAE Cyclic nucleotide phosphodiesterase 2A3PDE2A3E Cyclic nucleotide phosphodiesterase3APOE3AE Cyclic nucleotide phosphodiesterase 3BPDE3BE Cyclic nucleotide phosphodiesterase4APDE4AE Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase7PDE7E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclooxygenase ECOX1 Cyclooxygenase 2 COX2 E ECYP11A1CYP11A1 <BR> <BR> CYP11B1 CYP11B1 E ECYP11B2CYP11B2 <BR> <BR> CYP17 CYP17 E ECYP19CYP19 <BR> <BR> CYP1A1 CYP1A1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP1 A2 CYP1 A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E CYP27B1 PDDR E <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18 CYP2C18 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7CYP3A7E<BR> <BR> <BR> <BR> <BR> CYP4A11CYP4A11E<BR> <BR> <BR> <BR> <BR> CYP4B1CYP4B1E<BR> <BR> <BR> <BR> CYP4F2CYP4F2E CYP4F3 CYP4F3 E CYP51 CYP51 E CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathione beta synthase CBS E Cystatin C CST3 T Cystinosin CTNS T Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome b-245 alpha CYBA E Cytochrome b-245 beta CYBB E <BR> <BR> CytochromecE Cytochrome c oxidase, MTCO E Dihydrolipoyl succinyltransferase DLST E Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Doublecortin, SDCX Emerin EMD T Enothelin NEDN1 Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N Enolase EN01 E Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Epilepsy, progressive myoclonic 2 gene EPM2A E Excision repair complementation group 4 ERCC4 E protein Factor 1 (No. one) F1 <BR> <BR> Factor I I I F3 I<BR> <BR> <BR> <BR> Factor IX F9 Factor V F5 I Factor Vl l F7 I Factor VIII F8 I Factor X F10 I Factor Xl F11 Factor X) ! F12 I Factor Xlil A & B F13A & F13B I Fanconi anemia, complementation group A FANCA T Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen gamma FGG S Fibrobiast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G GABA receptor, alpha 1 GABRA1 N <BR> <BR> GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABA transaminase ABAT E Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1,3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Gastric Intrinsic factor, GIF GIF E Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glutamate decarboxylase, GAD GAD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutaryi-CoA dehydrogenase GCDH E Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH <BR> <BR> <BR> Giycero!kinaseGKE Glycinamide ribonucleotide (GAR) GART E transformytase Gonadotropin releasing hormone receptor GNRHR G <BR> <BR> Guanyty!cyctaseE Haemoglobin alpha 1HBA1T Haemoglobin alpha 2HBA2T Haemoglobin betaHBBT Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G <BR> <BR> Heparin Cofactor 11 HCF2 I Hepatic lipase LIPC E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Hippocampal cholinergic neurostimulating peptide, HCNP N Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N Histidase E HLA-B associated transcript 1 BAT1 I HMG-CoA reductase HMGCR E Holocarboxylase synthetase HLCS E Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E <BR> <BR> IC7 A and B I Inositol monophosphatase N Insulin INS G Insulin receptor INSR G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G Integrin beta 5 ITGB5 G Integrin beta 6 ITGB6 G Integrin beta 7 ITGB7 G Integrin, alpha 1 ITGA1 G Integrin, alpha 2 ITGA2 G Integrin, alpha 3 ITGA3 G Integrin, alpha 4 ITGA4 G Integrin, alpha 5 ITGA5 G <BR> <BR> Integrin, alpha 6 ITGA6 G Integrin, alpha 7 ITGA7 G 8ITGA8GIntegrin,alpha Integrin, alpha 9 ITGA9 G Integrin, alpha M ITGAM G Integrin, alpha X ITGAX G Interleukin (IL) 1 receptor IL1R I Interleukin (IL) 1, alpha IL1A I Interleukin (IL) 1, beta IL1 B <BR> <BR> Interleukin (IL) 10 IL10 I Interleukin (IL) 10 receptor IL10R I IL11IInterleukin(IL)11 Interleukin (IL) 11 receptor IL11R Interleukin(IL) 12 I receptor,beta1IL12RB1IInterleukin(IL)12 interleukin(IL) 13 I Interleukin (IL) 13 receptor IL13R IL2IInterleukin(IL)2 Interleukin (IL) 2 receptor, alpha IL2RA I Interleukin(IL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 Interleukin (IL) 3 receptor IL3R I IL4IInterleukin(IL)4 Interleukin(IL) 4 receptor IL4R I IL5IInterleukin(IL)5 Interleukin(IL) 5 receptor IL5R I IInterleukin(IL)6IL6 Interleukin(IL) 6 receptor IL6R I <BR> <BR> Interleukin (IL) 7 IL7 I interleukin(IL) 7 receptor IL7R I IL8IInterleukin(IL)8 Interleukin(IL) 8 receptor IL8R I IL9IInterleukin(IL)9 Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1RN, IL1RA I <BR> <BR> IP3 kinase E Kallikrein 3 KAK3 I Kininogen, High molecularweight KNG I Kynureninease E Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta binding LTBP2 G protein 2 Leptin LEP G Leptin receptor LEPR G Leukin I Leukocyte-specific transcript 1 LST-1 I Leukotriene A4 I Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor I LIM homeobox protein 1 LHX1 G LIM-Kinase I (LINK-I) Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Intermediate Density T Lipoprotein, Low Density 1 T Lipoprotein, Low Density 2 T Lipoprotein, Very Low Density VLDLR T Low density lipoprotein receptor-related protein LRP T precursor Lymphoid enhancer-binding factor LEF-1 G MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E Methionine synthase MTR E Mismatch repair gene, PMSL2 PMS2 G Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myelin basic protein S N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E NADPH-dependent cytochrome P450 POR E reductase NB6I Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neurite inhibitory protein N Neuroendocrine convertase 1 NEC1, PCSK1 E Neurofibromin GNF1 Neurofibromin 2 NF2 G Neurofilament protein, NF125 NF150 S Neurofilament protein, NF200 NF200 S Neurofilament protein, NF68 NF68 S Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Nitric oxide synthase 1, NOS1NOS1E Nitric oxide synthase 2, NOS2NOS2E Nitric oxide synthase 3, NOS3NOS3E Notch 3 NOTCH3 G Nuclear factor I-kappa-B-like gene!KBLj Nucleoside diphosphate kinase-A NDPKA E Oncogene bcl2 G Oncogene sis PDGFB G Ornithine delta-aminotransferase OAT E Ornithine transcarbamoylase OTC, NME1 E Parkin PARK2 N Persyn S Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phospholipase A2, group 10 PLA2G10 I Phospholipase A2, group 1B PLA2G1B I Phospholipase A2, group 2A PLA2G2A I <BR> <BR> PhospholipaseA2, group2B PLA2G2B Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E <BR> <BR> Plasminogen activatorinhibitor2 PAI2 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Platelet-activating factor receptor PAFR I Postsynaptic density-95 protein PSD95 N Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N POU domain, class 1, transcription factor 1 POU1F1 G (Pit1) Prekallikrein Presenilin 1 PSEN1 T Presenilin 2 PSEN2 T Prion protein PRNP N Procollagen N-protease E Proopiomelanocortin POMC N Prostacydin synthase Prostaglandin 15-OH dehydrogenase HGPD; PGDH I <BR> <BR> Prostaglandin D-DP receptor I<BR> <BR> <BR> <BR> <BR> <BR> Prostaglandin E1 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E2 receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E3 receptor I Prostagiandin F-FP receptorI Prostaglandin 12 receptor T Prostaglandin IP receptor I Protective protein for beta-galactosidase PPGB E Protein C PROC I Protein C inhibitor PCI I Protein kinase C, alpha PRKCA E Protein kinase C, gamma PRKCG E Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1R3 E subunit 3 Protein S PROS1 I Prothrombin precursor F2 I Purine nucleoside phosphorylase NP E Pyruvate carboxylase PC E Renin REN E Replication factor C RFC2 E RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N Secretase, alpha N Secretase, beta N Secretase, gamma N Selectin E SELE N Selectin L SELL N Selectin P SELP N Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solutecarrierfamily1 (glutamatetransporter), SLC1A1 T member 1 Solutecarrierfamily 1 (glutamatetransporter), SLC1A2 T member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Sphingomyelinase SMPD1 E Substance P N Succinic semi-aidehyde dehydrogenase ssadh E Sulfite oxidase SUOX E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfeit 1 SURF1 G SynaptogyrinN Synaptophysin SYP N <BR> <BR> Syntaxin 1 STX1 N<BR> <BR> <BR> <BR> <BR> <BR> <BR> Talin TLN G Tau protein MAPT S TEK, tyrosine kinase, endothelial TEK E Telomerase protein componentE Thrombin receptor F2R I Thrombopoietin THPO G <BR> <BR> Thromboxane A synthase 1 TBXAS1 I Topoisomerase I E Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta receptor 2 TGFBR2 G Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 I associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 I associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 I associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 Tumour necrosis factor alpha TNFA I Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I <BR> <BR> Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tyrosine aminotransferase TAT E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin B UBB G UbiquitinC UBC G Ubiquitin carboxyl-terminal esterase L1 UCHL1 G UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Uroporphyrinogen III synthase UROS E Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Xanthine dehydrogenase XDH E In a seventh aspect.

PSYCHOSES AND PERSONALITY The invention relates to a method of assessing the risk of developing clinical or social consequences of psychotic disorders or disorders of personality and indicating appropriate therapeutic interventions.

The 1990's has been heralded as the'decade of the brain'and the cumulative efforts of research groups around the world have led to considerable advances in our understanding of the principles, physiology and mechanisms of brain, or more properly, central nervous system (CNS) function.

The primary role of CNS function is to gather, integrate, and evaluate information concerning the organisms internal and external environments and then formulate actions designed to achieve the organisms'goals. In man such a simplistic summary lies behind our understanding of the physiology of the simple reflex ark and our crude attempts at investigating the information processing/physiology interface which enables the higher cognitive functions (e. g. reading writing, mathematics, music etc.).

The CNS often referred to as a single organ in the body. In reality it is a closely interconnected series of specialised sub-organs (e. g. hypothalamus, cortex, cerebellum, thalamus etc) which are known to have discrete functions. Understanding brain function implies a clear understanding of the biochemical, physiological and informational parameters which enable the interconnections between these sub-organs and which control the nature, direction and volume of information flow between them.

The CNS is made up of two major types of cells-neurones and glia. Neurones have a variety of morphological types (Betz cell, pyramidal cell etc) but each type has a common set of morphological features-cell body, dendrites, axon and axon terminals. Axons can be very long (up to 1 metre for spinal tracts) and project to distant regions of the CNS. Bundles of axons form the white matter tracts within the CNS. In terms of the processes of communication dendrites and axons are critical features as incoming information is usually received on dendrites whereas axons are the channels for information outflow. Communication between neurones is achieved by means of the release of neurotransmitters (a label which includes many types of molecules e. g. peptides, amines and nitric oxide) from specialised sites on axons- synapses. Thus, the release of neurotransmitters and their movement across the synaptic gap and interaction with receptor sites on neighbouring neurones is the core functional mechanism in the CNS.

Glial cells outnumber neurones and are divided into astrocytes, oligodendrocytes and microglia. Glia had been considered as having a'support'role for neuronal functioning. It is now realised that their functions'extend far beyond this and that they may be actively involved in the information processing function and in the modulation of the neuronal environment. Microglia have a critical role in the response of the CNS to disease, infection and damage. Such events'activate'microglia causing them to release a variety of factors (e. g. cytokines, growth factors) which aid the recovery and regeneration of CNS functions.

The point to point contact between specific sets of neurones is critical for CNS function. Failure of this point to point contact either through dysfunction, damage or disease lies at the heart of the appearance of neurological, psychiatric, psychological or social difficulties following such events (Roberts, Leigh and Weinberger 1993, Youdofsky and Hales 1994, Gelder 1996, Weatherall, Leadingham and Warrell 1996) Lishman 1997).

PSYCHOSES AND DISORDERS OF PERSONALITY A number of disorders present as subtle or marked changes from socially accepted norms in the way that ideas, thoughts or mood states are experienced or acted upon. In many cases although the presence of such phenomena can be readily documented at clinical interview, the certain identification of a CNS lesion or biochemical abnormality is not possible.

Examples of psychoses and personality disorders include; Schizophrenia Depression Anxiety states Mania Delirium Paranoia Personality disorders Sleep disorders Psychopathic disorders Sociopathic disorders Gender disorders Substance abuse disorders Psychoses are disorders of higher cognitive functions characterised by disturbances of reality or perception, impaired cognitive function, psychomotor retardation, thought disorder, affective disorder and depressive or manic symptoms (Gelder et al 1996, Lishman 1997). Schizophrenia is the disease most commonly associated with chronic psychotic states but similar states can be found in individuals with dementia or who have engaged in substance abuse. Delusions, hallucinations, thought disorder and flattening of affect are prominent symptoms in schizophrenia (Gelder et al 1997).

Mood disorders (e. g. depression, anxiety, mania) are also forms of psychotic disorders. As the name suggests the primary symptomatology seen in individuals with these types of psychosis are profound changes in mood (e. g. euphoria, elation, agitation rumination, depression) which is sustained and inappropriate given the individuals circumstances (Roberts, Leigh and Weinberger 1993, Gelder et al 1996, Lishman 1997).

Personality refers to the general way in which a given individual behaves and responds to a wide variety of social and environmental circumstances. The assessment of personality in relation to illness or injury is of importance as this can determine how a given individual might respond or behave when experiencing the stress of ill health or altered circumstances. Personality disorders are identified when an individual has always behaved in an abnormal fashion (although the definition of such abnormal behaviour is difficult, Gelder et al 1996). In such individuals the difficulties of healthcare management are compounded due to the pre-existing abnormal pattern of behaviour. The types of behavioural traits encountered in personality disorders include paranoia, aloofness, obsession, aggression, dependancy, mistrustfulness, psychopathic, anti-social, passive, impulsive, stubborn, guilt and lack of guilt (Gelder et al 1996).

The range and degree of symptoms present is very variable and the exact boundary between psychotic or personality disorders and'eccentric'everyday behaviour can be difficult to distinguish. As such there is a considerable interaction between the individuals social environment and the degree or otherwise to which'abnormal' behaviours or thoughts will be accepted or tolerated.

Some acute psychotic states (often related to substance abuse) resolve fairly rapidly and may leave little or nothing in the way of residual problems. However, the majority of psychotic and personality disorders can give rise to profoundly disabling conditions in which individuals experience significant clinical, psychological, social and economic consequences of their disorders.

Given these difficulties, the management of the healthcare of such patients can include drug treatments, psychotherapy, behavioural modification, psychological counselling, occupational therapies, community care and even psychosurgery.

In many of these disorders drug therapy intended to modify the actions of particular neurotransmitters can be very effective (e. g. neuroleptics, lithium, benzodiazepines).

However, many of these drugs also have side-effects such as sedation, orthostatic hypertension, sexual dysfunction, reflex tachycardia and impaired cognition. As a result of the side effects and the disordered mental state of many patients compliance in drug therapy is a significant issue in healthcare management. Such problems can be greatly magnified when dealing with patients with a personality disorder.

The physiology and control of the body's central nervous system is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from psychotic disorders and disorders of personality including genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio-economic circumstances. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to the occurrence of psychotic and personality disorders and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of psychotic disorders and disorders of personality.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION PSYCHOSES & PERSONALITY GENE LIST HUGO gene Protein symbol function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyciase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adenylosuccinate lyase yaseADSLE Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, a!pha2ADRA2N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T <BR> <BR> alphal-antichymotrypsin AACT E alpha-synuclein SNCA N Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Apolipoprotein A I APOA1 T <BR> <BR> Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T <BR> <BR> Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Arginosuccinate synthetase ASS E Arylsulfatase A ARSA E Ataxia telangiectasia gene, AT ATM G ATP/ADP transiocase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G peptidereceptorBNPR2GAtrialnatriuretic Atrial natriuretic peptide receptor C NPR3 G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G beta-synuclein SNCB N Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor C1 inhibitor E Ca (2+) transporting ATPase, slow twitch ATP2A2 T Calbindin 1 CALB1 G Calbindin D9K CALB3 G Calcineurin ICALNA1 Calcineurin A2 CALNA2 I Calcineurin ICALNA3 Calcineurin B Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha- CACNA1E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase II CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Calretinin CALB2 N Cannabinoid receptor CNR1 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Cardiac-specific homeobox, CSX CSX G Caspase 1 CASP1 G Catechol-O-methyltransferase COMT E Ceroid lipofuscinosis neuronal 2 CLN2 N Ceroid lipofuscinosis neuronal 3 CLN3 N Ceroid lipofuscinosis neuronal 4 CLN4 N Ceroid lipofuscinosis neuronal 5 CLN5 N Ceroid lipofuscinosis neuronal 6 CLN6 N Chemokine receptor CCR5 CCR5 <BR> <BR> Chemokine receptor CXCR4 CXCR4 ! Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Choline acetyltransferase CHAT E Chymotrypsinogen E Ciliary neurotrophic factor (CNTF) CNTF G Ciliary neurotrophic factor (CNTF) receptor CNTFR G Citrate synthase E Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP response element binding protein CREB G Cyclic AMP-dependent protein kinase PKA E Cyclic nudeotidephosphodiesteraselBPDE1BE Cyclic nudeotidephosphodiesterase1B1PDE1B1E <BR> <BR> Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclooxygenase ECOX1 Cyclooxygenase 2 COX2 E <BR> <BR> CYP11A1 CYP11A1 E ECYP11B1CYP11B1 ECYP11B2CYP11B2 <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> <BR> CYP19 CYP19 E<BR> <BR> <BR> <BR> CYP1A1 CYP1A1 E<BR> <BR> <BR> <BR> <BR> CYP1A2 CYP1A2 E<BR> <BR> <BR> <BR> CYP1B1 CYP1B1 E CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> <BR> CYP2C18 CYP2C18 E<BR> <BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E<BR> <BR> <BR> <BR> CYP4Bl CYP4Bl E<BR> <BR> <BR> <BR> <BR> CYP4F2CYP4F2E CYP4F3 CYP4F3 E <BR> <BR> CYP51CYP51E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Delta aminolevulinate dehydratase ALAD E Delta-7-dehydrocholesterol reductase DHCR7 E Dihydroiipoamide succinyltransferase N Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Excision repair complementation group 4 ERCC4 E protein Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibrobiast growth factor receptor 3 FGFR3 G Flightless-II, Drosophila homolog of FLII G Fragile site, folic acid type, rare, fra (X) A FRAXA N Fragile site, folic acid type, rare, fra (X) E FRAXE N Fragile site, folic acid type, rare, fra (X) F FRAXF N GABA receptor, alpha 1 GABRA1 N GABA receptor, aipha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABAreceptor, aipha4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABAtransaminase ABAT E GDP dissociation inhibitor 1 GD11 G Geniospasm 1 GSM1 G Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glutamate decarboxylase, GAD GAD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N <BR> <BR> Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N <BR> <BR> Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutaryl-CoA dehydrogenase GCDH E Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Gonadotropin releasing hormone receptor GNRHR G Guanidinoacetate N-methyltransferase GAMT E Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNA ! 1 Guanine nucleotide-binding protein, alpha GNA12 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNAO Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanylate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylyl cyclase E <BR> <BR> Heat shock protein, HSP60 I<BR> <BR> <BR> <BR> Heat shock protein, HSP70 I<BR> <BR> <BR> <BR> <BR> Heat shock protein, HSP90 I Heat shock protein, HSPA1 <BR> <BR> Heat shock protein, HSPA2 I Heparan sulfamidase E Hepatic lipase LIPC E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N HMG-CoA reductase HMGCR E Huntingtin HD T Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E Inositol monophosphatase IMPA1 N Insulin INS G Insulin receptor INSR G Interieukin (IL) 1 receptor IL1R I Interleukin (IL) 1, alpha IL1A I betaIL1BIInterleukin(IL)1.

Interleukin (IL) 10 IL10 I Interleukin (IL) 10 receptor IL10R I Interleukin (IL) 11 IL11 I Interleukin (IL) 11 receptor L11R Interleukin (IL) 12 IL12 I Interleukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 Interleukin (IL) 13 receptor IL13R IL2IInterleukin(IL)2 Interieukin (IL) 2 receptor, alpha IL2RA Interieukin (IL) 2 receptor, gamma IL2RG Interleukin (IL) 3 IL3 I Interleukin (IL) 3 receptor IL3R IInterleukin(IL)IL4 Interleukin (IL) 4 receptor IL4R I IL5IInterleukin(IL)5 Interleukin (IL) 5 receptor IL5R <BR> <BR> Interleukin (IL) 6 IL6 Interleukin(IL) 6 IIL6R <BR> <BR> Interleukin (IL) 7 IL7 Interleukin (IL) 7 receptor IL7R I Interleukin(IL) 8 I receptorIL8RIInterleukin(IL)8 Interleukin (IL) 9 IL9 I Interleukin(IL) 9 receptor IL9R Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I <BR> <BR> I P3 kinase E Leukin I Mismatch repair gene, PMSL2 PMS2 G Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myelin basic protein S Myosin, 3MYL3Schain NADPH-dependent cytochrome P450 POR E reductase Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neurite inhibitory protein N Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurofilament protein, SNF150 Neurofilament protein, SNF200 Neurofilament protein, SNF68 Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1r N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Nucleoside diphosphate kinase-A NDPKA E Oncogene sis PDGFB G Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N Ornithine delta-aminotransferase OAT E Paraoxonase PON1 PON1 E Parkin PARK2 N Phospholipase A2, group 10 PLA2G10 Phospholipase A2, group 1 B PLA2G1 B I <BR> <BR> Phospholipase A2, group 2A PLA2G2A Phospholipase A2, group 2B PLA2G2B Phospholipase A2, group 4A PLA2G4A Phospholipase A2, group 4C PLA2G4C Phospholipase A2, group 5 PLA2G5 Phospholipase A2, group 6 PLA2G6 Phospholipase C alpha I Phosphoiipase C betaI Phospholipase C delta PLCD1 Phospholipase C epsilon Phospholipase C gamma PLCG1 Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Potassium inwardly-rectifying channel J1 KCNJ1 N POU domain, class 1, transcription factor 1 POU1F1 G (Pit1) Presenilin 1 PSEN1 T Presenilin 2 PSEN2 T Prion protein PRNP N Proline dehydrogenase PRODH E Proopiomelanocortin POMC N Prosaposin PSAP N Protective protein for beta-galactosidase PPGB E Protein kinase C, alpha PRKCA E Protein kinase C, gamma PRKCG E Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1 R3 E subunit 3 Proteolipid protein PLP N RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N Secretase, alpha N Secretase, beta N Secretase, gamma N Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1D HTR1D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Synapsin 1a & 1b SYN1 N Synapsin 2a & 2b SYN2 N Synaptic vesicle amine transporter SVAT N Synaptogyrin N Synaptophysin SYP N Synaptosomal-associated protein, 25KD SNAP25 N Syntaxin 1 STX1 N Tachykinin receptor, NK1 R TACR1 N Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N Talin TLN G TEK, tyrosine kinase, endothelial TEK E Telomerase protein component E Transcobalamin 1, TCN1 T Transcobalamin 2, TCN2 TCN2 T Transcription factor, TUPLE1 TUPLE1 N Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Transthyretin TTR T Trypsin inhibitor E Tryptophan 2,3-dioxygenase TD02 N Tryptophan hydroxylase TPH E Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 I associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 I associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 I associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 I associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 I associated factor 6 Tumour necrosis factor alpha TNFA I Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I Tyrosinase TYR E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin activating enzyme, E1 E UbiquitinB UBB G UbiquitinC UBC G Ubiquitin protein ligase E3A UBE3A E UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vesicular monoamine transporter 1 VMAT1 N Vesicular monoamine transporter 2 VMAT2 N In an eighth aspect.

CARDIOVASCULAR DISORDERS The invention relates to a method of assessing the risk of developing the symptoms and consequences of damage, disease or dysfunction of the cardiovascular system.

The cardiovascular system serves to deliver oxygen and nutrients to the body tissues and remove wastes. It also serves to transport components of the immune system to the sites of infection and remove the debris of infection.

Disease and dysfunction of the. cardiovascular system is the commonest cause of death in the western world. In the USA some 50% of deaths are attributed to symptoms and consequences of cardiovascular disease, dysfunction and damage disease.

The cardiovascular system includes; * The pumping activity of the heart including the generation of electrical activities to synchronise cardiac muscle contraction and the systems for altering activity in order to maintain an appropriate arterial pressure.

* The vasculature (arteries, arterioles, capillaries and veins) required to transport blood through vascular beds in order to deliver oxygen and nutrients and remove wastes.

* Blood volume and composition, including water and electrolyte balances (in conjunction with the renal system), lipid composition and the proteins required for clotting and lysis.

* The regulation and control of the cardiovascular system is the relationship between it and the central nervous system. Changes in willed intention or responses to environmental events need to be reflected by changes in the ability of the body to alter levels of activity Disease or dysfunction of the cardiovascular system will give rise to a variety of symtoms requiring careful examination in order to determine the patho-physiological cause and the appropriate treatment required. Common symptoms are: Breathlessness Chest pain Oedema Fatigue Syncope and palpitation Cardiac cachexia The diverse physiology of the components of the symptoms and consequences of cardiovascular disease, dysfunction and damage system make it vulnerable to damage or disease by a number of pathological processes such as (Weatherall, Leadingham and Warrell 1996); Arrythmias Angina Ischaemic heart disease Valve disease Pericardial disease Cardiomyopathy Congenital heart disease Pulmonary disorders Hypertension Atheroma Cachexia Circulatory disorders Coagulation/clotting disorders.

Peripheral arterial disease Lymphoedema As a result of this diversity the treatment of cardiovascular disorders is complex and there is a wide range of therapeutic interventions and options.

Conditions involving disorder of the electrical activity of cardiac muscle (arrhythmias) cause a variety of symptoms ranging from discomfort to sudden death.

In many cases clinically significant arrythmia is associated with heart disease (e. g. myocardial infarction). Arrhythmias can be classified as supraventricular or ventricular arrythmias and they can be treated by different classes of drug (e. g. digoxin and lignocaine respectively).

Insufficiency of blood to heart muscle can cause the pain associated with angina pectoris. This syndrome is can be treated with drugs which enhance peripheral dilatation such as nitrates, thus reducing venous return. In response to this the ventricular volume is reduced relieving the oxygen defecit and reducing the pain.

High blood pressure is associated with decreased life-expectancy and increased risk of stroke, coronary heart disease and other end organ disease (e. g. retinopathy, peripheral neuropathy, renal failure).

In some patients mild hypertension can be controlled by diet restriction, stopping smoking or reducing alcohol consumption. However, in many cases the problems can be alleviated by appropriate drug treatments such as p-adrenoreceptor antagonists, angiotensin converting enzyme inhibitors and calcium channel antagonists.

Diseases of the cardiovascular system can respond well to drug treatments or, in severe cases, transplantation and significant improvements in the management of patients have been made over the last 3 decades. However, many therapeutic interventions carry the risk of adverse events e. g. the potential for neurological damage following cardiac bypass procedures or the adverse consequences following the interactions between calcium channel antagonists and other drugs.

The physiology and control of the body's cardiovascular system and its response to infection and injury is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, have an impact on the functioning and success of the patients attempts to minimise damage and restore function to the system. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from cardiovascular disease and damage including age, sex, nutritional status, pre-existing disease or injury and drug treatments. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to cardiovascular disease, dysfunction and damage and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of injury and infection.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION CARDIOVASCULAR GENE LIST HUGO gene Protein symbol function 17beta hydroxysteroid oxidoreductase E 2,3-bisphosphoglycerate mutase BPGM E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 3-oxoacid CoA transferase OXCT E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) Acetoacetyl 1-CoA-thiolase ACAT1 E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyl CoA acyltransferase ACAA E Acetylcholinesterase ACHE E Acid phosphatase 2, lysosomal ACP2 E Acidic amino acid transporter T Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Activin A receptor, type 2B ACVR2B G Acyl CoA dehydrogenase, long chain ACADL E Acyl CoA dehydrogenase, very long chain ACADVL E Adaptin, beta 3A ADTB3A T Adducin, aipha ADD1 S Adducin, beta ADD2 S Adenosine deaminase ADA E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adenylate kinase AK1 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Alanine aminotransferase T Alanine-glyoxylate aminotransferase AGXT E Albumin, ALB ALB T Alcoholdehydrogenase 1 ADH1 E <BR> <BR> Alcohol dehydrogenase 2 ADH2 E Alcohol dehydrogenase 3 ADH3 E Alcohol dehydrogenase 5 ADH5 E Alcohol dehydrogenase 6 ADH6 E Alcohol dehydrogenase 7 ADH7 E Aldehyde dehydrogenase 1 ALDH1 E Aldehyde dehydrogenase 10 ALDH10 E Aldehyde dehydrogenase 2 ALDH2 E <BR> <BR> Aldehydedehydrogenase 5 ALDH5 E Aldehydedehydrogenase 6 ALDH6 E Aldehyde dehydrogenase 7 ALDH7 E <BR> <BR> Aidolase A ALDOA E Aldolase B ALDOB E Aldolase C ALDOC E Aldosterone receptor MLR G Alpha 1 acid glycoprotein AAG; AGP T Alpha 2 macroglobulin A2M I <BR> <BR> alpha1-antitrypsin Pl E alpha2-antiplasmin PLI E alpha-actinin 2 ACTN2 G alpha-actinin 3 ACTN3 G alpha-Galactosidase A GLA E alpha-L-Iduronidase IDUA E Aminopeptidase P XPNPEP2 E Amphiregulin AREG G Amylo-1,6-glucosidase AGL E Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Ankyrin 1 ANK1 S Ankyrin 2 ANK2 S Ankyrin 3 ANK3 S Annexin 1IANX Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E Apolipoprotein (a) LPA T Apolipoprotein A 4 APOA4 T APOA1TApolipoproteinAI Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Aquaporin 1 AQP1 T Aquaporin 2 AQP2 T Arginine vasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Arginosuccinate lyase ASL E Arylsulfatase B ARSB E Aspartylglucosaminidase AGA E Ataxia telangiectasia gene, AT ATM G ATP/ADP translocase E ATP-binding cassette transporter 7 ABC7 I Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Autoimmune regulator, AIRE AIRE I BCL2-related protein A1 BCL2A1 G beta 2 microglobulin B2M I beta-endorphin receptor N Bile acid coenzyme A: amino acid N-BAAT E acyltransferase Bile salt export pump BSEP, PFIC2 T Bile salt-stimulated lipase CEL E Bilirubin UDP-gtucuronosyttransferaseE Bloom syndrome protein BLM G Bradykinin receptor I Bradykinin receptor B2 I Butyrylcholinesterase BCHE E Ca (2+) transporting ATPase, fast twitch ATP2A1 T Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G <BR> <BR> CalcineurinA1 CALNA1 Calcineurin A2 I <BR> <BR> Calcineurin A3 CALNA3 I Calcineurin B I Calcium channel, voltage-dependent, alpha CACNA1 F N 1Fsubunit Calcium channel, voltage-dependent, Alpha-CACNA1B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha- CACNA1C N <BR> <BR> 1C<BR> <BR> <BR> <BR> <BR> Calcium channel, voltage-dependent, Alpha-CACNA1 D N<BR> <BR> <BR> <BR> 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G Calpain CAPN, CAPN3 E Calretinin CALB2 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E alphaCA1ECarbonicanhydrase, Carbonic anhydrase, beta CA2 E Carboxypeptidase CPN E Cardiac-specific homeobox, CSX CSX G Carnitine acylcarnitine translocase CACT E proteinCDSP,SCDTCarnitinetransporter Cartilage-hair hypoplasia gene CHH N <BR> <BR> Catechol-O-methyltransferase COMT E Caveolin 3 CAV3 E <BR> <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> <BR> CD4 CD4 I Cdc 25 phosphatase G Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-LECAM1 G endothelial, LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G Cellubrevin CEB N Ceroid lipofuscinosis neuronal 3 CLN3 N Ceruloplasmin precursor CP E Chemokine receptor CCR2 CCR2 I Chemokine receptor CCR3 CCR3 I Chemokine receptor CCR5 CCR5 I Chemokine receptor CXCR1 CXCR1 I Chemokine receptor CXCR2 CXCR2 I Chemokine receptor CXCR4 CXCR4 I Chloride channel KB CLCNKB S Cholestasis, progressive familial intrahepatic FIC1 G 1 gene Cholesterol ester transfer protein CETP T Choline acetyltransferase CHAT E Chymase CHY1 Clathrin T Cockayne syndrome gene, CKN1 CKN1 G Collagen I alpha 1 COL1A1 S alpha2COL1A2SCollagen1 Collage II alpha 1 COL2A1 S Collagen III alpha 1 COL3A1 S <BR> <BR> Collagen IV alpha 1 COL4A1 S Collagen 2COL4A2Salpha alpha3COL4A3SCollagenIV <BR> <BR> Collagen IV alpha 4 COL4A4 S Collagen 5COL4A5Salpha <BR> <BR> Collagen IValpha 6 COL4A6 S Collagen IX alpha 2 COL9A2, EDM2 S alpha3COL9A3SCollagenIX Collagen SCOLR Collage V aipha 1 COL5A1 S Collage V alpha 2 COL5A2 S <BR> <BR> Collagen VI alpha 1 COL6A1 S Collagen VI COL6A2S2 <BR> <BR> Collagen VI alpha 3 COL6A3 S Collagen Vil alpha 1 COL7A1 S Collagen X alpha 1 COL10A1 S Collagen X alpha 1 COL11A1 S Collage XI alpha 2 COL11A2 S Collagen XVII alpha 1 COL17A1 S Collagenic-like tail subunit of asymmetric COLQ E acetylcholinesterase Colony-stimulating factor 2 beta receptor CSF2RB G 3CSF3GColony-stimulatingfactor Colony-stimulating factor 3 receptor CSF3R G Corticosteroid binding globulin CBG N Cortico-steroid binding protein T CRHTCorticotrophin-releasinghormone Corticotrophin-releasing hormone receptor CRHR1 T Creb binding protein CREBBP G Cu2+ transporting ATPase alpha polypeptide ATP7A E Cu2+ transporting ATPase beta polypeptide ATP7B E <BR> <BR> Cubilin CUBN T Cyclic AMP-dependent protein kinase PKA E Cyclin-dependent kinase 2 CDK2 G Cyclin-dependent kinase inhibitor 1C (P57, CDKN1C G KIP2) Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E ECYP11A1CYP11A1 ECYP11B1CYP11B1 ECYP11B2CYP11B2 <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> <BR> CYP19 CYP19 E ECYP1A1CYP1A1 <BR> <BR> <BR> CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E CYP27B1PDDRE<BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18CYP2C18E ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cytidine deaminase CDA E <BR> <BR> Cytidine-5-prime-triphosphate synthetase CTPSE Cytochrme a E Cytochrome ECYB5 Cytochrome c E Cytochrome c oxidase, MTCO E DAX1 DAX1Ireceptor Delta aminolevulinate dehydratase ALAD E Delta (4)-3-oxosteroid 5-beta-reductase E Delta-7-dehydrocholesterol reductase DHCR7 E Deoxycorticosterone (DOC) receptor E SDesminDES Dihydrodiol dehydrogenase EDDH1 Dihydrofolate reductase DHFR E <BR> <BR> Dihydrotipoy!dehydrogenaseE Dihydrolipoyl dehydrogenase 2 PDHA E <BR> <BR> Dihydrolipoyl transacetylase PDHA E DM-Kinase DMPK E DOPA decarboxylase DDC E Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Duffyblood group FY T Dynamin DNM1 G Dystrophia myotonica DM, DMPK E Dystrophia myotonica, atypical DM2 E <BR> <BR> Dystrophin DMD S<BR> <BR> <BR> <BR> Elastin ELN S Emerin EMD T Endocardial fibroelastosis 2 gene EFE2 S <BR> <BR> Endoglin ENG S Endometrial bleeding-associated factor EBAF G Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Enoyl CoA isomerase E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Erythrocyte membrane protein band 4.1 EPB41 S Erythrocyte membrane protein band 4.2 EPB42 S Erythrocyte membrane protein band 7.2 EPB72 S Erythroid kruppel-like factor EKLF G <BR> <BR> Erythropoietin EPO I Erythropoietin receptor EPOR I Estrogen receptor ESR G Faciogenital dysplasia FGD1, FGDY T Factor 1 (No. one) F1 Factor B, I Factor I Factor IHF1 Factor I (letter I) IF I Factor III F3 I Factor IX XF9 Factor VF5! Factor V!!F7t Factor V))tF8) Factor IF10 Factor XI Fll I Factor XI I F12 I Factor Xiii A & B F13A & F13B I Fanconi anemia, complementation group A FANCA T Fanconi anemia, compiementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fatty acid binding proteins FABP1 T Fatty acid binding proteins FABP2 FABP2 T Fatty acid binding proteins FABP3 T Fatty acid binding proteins FABP4 T Fatty acid binding proteins FABP5 T Fatty acid binding proteins FABP6 T Fc fragment of IgG, high affinity IA, receptor FCGR1A G for Fc fragment of IgG, low affinity Ila, receptor FCGR2A G for (CD32) Fc fragment of IgG, low affinity Illa, receptor FCGR3A G for (CD16) Fibrillin 1 FBN1 G Fibrillin2 FBN2 G Fibrinogen aipha FGA S Fibrinogen beta FGB S Fibrinogen gamma FGG S Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G <BR> <BR> Flightless-11, Drosophila homolog of FLII G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Formiminotransferase E Fragile site, folic acid type, rare, fra (X) A FRAXA N Fucosidase alpha-L-2 E <BR> <BR> Fucosyltransferase 2 FUT2 T Fucosyltransferase 3 FUT3 T Fucosyitransferase 6 FUT6 T Fukuyama type congenital muscular FCMD G dystrophy GABAreceptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABAtransaminase ABAT E Galactose 1-phosphate uridyl-transferase GALT E <BR> <BR> Galactosyltransferase 1 GT1 G<BR> <BR> <BR> <BR> <BR> <BR> <BR> Galactosyltransferase, alpha 1, 3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G <BR> <BR> Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyl carboxylase GGCX T Gap junction protein alpha 1 GJA1 T Gap junction protein beta 1 GJB1 T Gap junction protein beta 2 GJB2 T Glucocorticoid receptor GRL G Glucosaminyl (N-acetyl) transferase 2, I-GCNT2 E branching enzyme Glucosidase, acid alpha GAA E Glucosidase, acid beta GBA E Glutamate decarboxylase, GAD GAD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutamate-cysteine ligase GLCLC E Glutaryl-CoA dehydrogenase GCDH E Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E Glutathione reductase, GSR GSR E Glutathione S-transferase, GSTZ1 GSTZ1 E <BR> <BR> <BR> Glyceraldehyde-3-phosphate GAPDH E dehydrogenase, GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase <BR> <BR> Glycophorin A GYPA S Glycophorin B GYPB S Glycophorin C GYPC S Glycosyltransferases, ABO blood group ABO E Growth arrest-specific homeobox GAX G Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNAI1 Guanine nucleotide-binding protein, alpha GNA12 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanyiyi cyclase E H (+), K (+)-ATPase ATP4B N Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin epsilon T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Haptoglobin, alpha 1 HPA1 I <BR> <BR> Haptoglobin, alpha 2 HPA2 I Haptoglobin, beta HPBI Heat shock protein, HSP60 I <BR> <BR> Heat shock protein, HSP70 I<BR> <BR> <BR> <BR> <BR> Heat shock protein, HSP90 I Heat shock protein, HSPA1 <BR> <BR> Heat shock protein, HSPA2 I Hemochromatosis HFE T Hemopexin HPX I Heparan suifamidase E Heparin binding epidermal growth factor HBEGF G Heparin Cofactor II HCF2 I Hepatic lipase LIPC E Hermansky-pudlak syndrome gene HPS T Hexokinase 1 HK1 E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Histidine-richTHRG HLA-B associated transcript 1 BAT1 I HLH transcription factor HAND1 HAND1 G HLH transcription factor HAND2 HAND2 G <BR> <BR> HMG-CoAlyase HMGCL E HMG-CoAreductase HMGCR E HMG-CoAsynthase HMGCS2 E Homeobox (HOX) gene A13 HOXA13 G Homeobox HB24 HLX1 G Hormone-sensitive lipase HSL E Human chorionic gonadtrophin, hCG CG G Human placenta lactogen CSH1 G Hypoxanthine-guanine HPRT E phosphoribosyltransferase,HGPRT Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E <BR> <BR> IC7 A and B I Iduronate 2 sulphatase IDS E Indian hedgehog, ihh IHH G Inosine triphosphatase ITPA E Inositol 1,4,5-triphosphate receptor 1 ITPR1 G Inositol 1,4,5-triphosphate receptor3 ITPR3 G Inositol monophosphatase IMPA1 N <BR> <BR> Inositol polyphosphate 1-phosphatase INPP1 N<BR> <BR> <BR> <BR> Insulin INS G Insulin receptor INSR G Insulin receptor substrate-1 IRS1 G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G Integrin beta 5 ITGB5 G Integrin beta 6 ITGB6 G Integrin beta 7 ITGB7 G Integrin, alpha 1 ITGA1 G Integrin, alpha 2 ITGA2 G Integrin, alpha 3 ITGA3 G Integrin, alpha 4 ITGA4 G Integrin, alpha 5 ITGA5 G integrin, alpha 6 ITGA6 G <BR> <BR> Integrin, alpha 7 ITGA7 G Integrin, alpha 8 ITGA8 G Integrin, alpha 9 ITGA9 G MITGAMGIntegrin,alpha Integrin, alpha X ITGAX G Inter-alpha-tryupsin inhibitor, IATI E Intercellular adhesion molecule 1 ICAM1 I Intercellular adhesion molecule 2 ICAM2 I Intercellular adhesion molecule 3 ICAM3 I Interferon alpha IFNA1 I Interferon beta IFNB I IFNGIInterferongamma Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I Interleukin (IL) 1 receptor ILI R I Interleukin (IL) 1, alpha IL betaIL1BIInterleukin(IL)1, IL10IInterleukin(IL)10 Interleukin (IL) 10 receptor IL10R I IL11IInterleukin(IL)11 Interleukin (IL) 11 receptor IL11R I L12IInterleukin(IL)12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I Interleukin(IL) 13 I Interleukin (IL) 13 receptor IL13R I Interleukin (IL) 2 IL2 I Interleukin (IL) 2 receptor, alpha IL2RA I Interleukin(IL) 2 receptor, gamma IL2RG I Interleukin (IL) 3 IL3 I Interleukin (IL) 3 receptor IL3R I L4IInterleukin(IL)4 Interleukin (IL) 4 receptor IL4R I Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 receptorIL6RIInterleukin(IL)6 <BR> <BR> Interleukin (IL) 7 IL7 I Interleukin (IL) 7 receptor IL7R I IL8IInterleukin(IL)8 Interleukin (IL) 8 receptor IL8R I <BR> <BR> Interleukin (IL) 9 IL9 I Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1RN, IL1RA I IP3 kinase E Isovaleric acid CoA dehydrogenase IVD E KallikreinIKAK3 Kell blood group precursor XK, KEL T Ketohexokinase KHK E Kininogen, High molecular weight KNG I Kynureninease E Lactate dehydrogenase, A LDHA E Lactate dehydrogenase, B LDHB E Lamin A/C LMNA G Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor1 LAMR1 G Latent transforming growth factor-beta LTBP2 G binding protein 2 Lecithin-cholesterol acyltransferase LCAT E Lectin, mannose-binding 1 LMAN1 Lectin, mannose-binding 2 MBL2 Leptin LEP G Leptin receptor LEPR G Leukocyte-specific transcript ILST-1 Leukotriene A4 synthase LTA4S E <BR> <BR> Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 synthase LTC4S E LIM homeobox protein 1 LHX1 G Lipocortin IANX4 Lipoprotein lipase LPL I Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Very Low Density VLDLR T Lipoprotein-associated coagulation factor LACI I Lipoxygenase E <BR> <BR> Lipoxygenase 12 (platelets) LOG12 I Long QT-type 2 potassium channels LQT2, KCNH2 T Low density lipoprotein receptor-related LRP T protein precursor Lymphoid enhancer-binding factor LEF-1 G Lysosomal acid lipase LIPA E Macrophage inflammatory protein-2 MIP2 I MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 MADS box transcription-enhancer factor 2A MEF2A G MADS box transcription-enhancer factor 2B MEF2B G Mannosidase, alpha B lysosomal MANB E <BR> <BR> MatrixGla protein MGP G<BR> <BR> <BR> <BR> Matrixmetalloproteinase 1 MMP1 E Matrix metalloproteinase 10 MMP10 E Matrix metailoproteinase EMMP11 Matrix metalloproteinase 12 MMP12 E Matrix metalloproteinase 13 MMP13 E Matrix metalloproteinase 14 MMP14 E Matrix metalloproteinase 15 MMP15 E Matrix metailoproteinase 16 MMP16 E Matrix metalloproteinase 17 MMP17 E Matrix metalloproteinase 18 MMP18 E Matrix metalloproteinase 19 MMP19 E Matrix metalloproteinase 2 MMP2 E Matrix metalloproteinase 3 MMP3, STMY1 E Matrix metalloproteinase 4 MMP4 E Matrix metalloproteinase 5 MMP5 E Matrixmetalloproteinase 6 MMP6 E Matrix metalloproteinase 7 MMP7E Matrix metalloproteinase 8 MMP8 E Matrix metalloproteinase 9 MMP9 E Melanocortin 2 receptor MC2R T Melanocortin 4 receptor MC4R T Methionine synthase MTR E Methionine synthase reductase MTRR E Methylmalonyl-CoA mutase MUT E Mevalonate kinase MVK E MHC Class I: A I MHC Class IB MHC Class IC <BR> <BR> MHC Class I : LMP-2, LMP-7 I MHC Class I: Tap1 ABCR, TAP1 I <BR> <BR> MHC Class ll: DP HLA-DPB1 I MHC Class II: I MHC Class IDR MHC Class If: Tap2 TAP2, PSF2I MHC Class lI: Complementation group A MHC2TAI MHC Class lI : Complementation group B rfxankI MHC Class II:Complementation group C RFX5 I MHC Class lI: Complementation group D RFXAP I Microsomal triglyceride transfer protein MTP T Mismatch repair gene, PMSL2 PMS2 G Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta HADHB E subunit Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Monocyte chemoattractant protein 1 MCP1 I Mucolipidoses GNPTA E Mulibrey nanism MUL T Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N MutS homolog 3 MSH3 G Myoglobin T Myosin, cardiac MYH7 S Myosin, lightchain 2 MYL2 S Myosin, lightchain 3 MYL3 S Myosin-binding protein C, cardiac MYBPC3 S <BR> <BR> Myotubularin MTM1 S Na+, alphaATP1A1GATPase, Na+, K+ ATPase, beta 1 ATP1B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ NHE1T1 Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T N-acetylglucosamine-6-sulfatase GNS E NADPH oxidase I NADPH-dependent cytochrome P450 POR E reductase NB6I <BR> <BR> <BR> Nebulin NEB S Nephronophthisis 1 NPHP1 T Neuraminidase sialidase NEU T <BR> <BR> <BR> Neuregulin HGL G Neurite inhibitory protein N Neuroendocrineconvertase 1 NEC1, PCSK1 E Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neutrophii cystolic factor 1 NCF 1 I Neutrophil cystolic factor 2 NCF2 Niemann-Pick disease protein NPC1 T Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Notch ligand-jagged 1 JAG1, AGS G Nuclear factor I-kappa-B-like gene IKBL I Oncogene sis PDGFB G Oncostatin M OSM G Oncostatin M receptor OSMR G Osteonectin ON G Osteopontin OPN G Osteoprotegerin OPG G Pancreatic lipase PNLIP E Pancreatic lipase related protein 1 PLRP1 # Pancreatic lipase related protein 2 PLRP2 E Paraoxonase PON1 PON1 E Paraoxonase PON2 PON2 E Paraoxonase PON3 E Parvalbumin PVALB G Patched (Drosophila) homolog, PTCH PTCH G PCNA (proliferating cell nuclear antigen) E Pepsinogen E Peroxidase, salivary SAPX E Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome proiiferative activated receptor, PPARA T alpha Peroxisome proliferative activated receptor, PPARG T gamma Peroxisome receptor 1 PXR1 T P-glycoprotein 3 PGY3 T Phosphatidylinositol glycan, class A PIGA G (paroxysmal nocturnal hemoglobinuria) Phosphatidylinositol transfer protein PITPN G Phosphofructokinase, muscle PFKM E Phosphoglucose isomerase GPI E <BR> <BR> Phospholipase A2, group 10 PLA2G10 Phospholipase A2, group 1 B PLA2G1 B I Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I <BR> <BR> Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Phosphomannomutase-2 PMM2 T Phosphoribosyl pyrophosphate synthetase PRPS1 E Phosphorylase kinase, alpha 2 PHKA2 E Phytanoyl-CoA hydroxylase PHYH G Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PA12 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Platelet glutaminase GLS T Platelet glycoprotein 1 b, alpha GP1 BA Platelet glycoprotein 1 b, beta GP1 BBI Platelet glycoprotein 1 b, gamma GP1 BG <BR> <BR> Plateletglycoprotein IX GP9 Platelet glycoprotein V GP5 Platelet monamine oxidase T Platelet-activating factor acetylhydrolase 1B PAFAH1B1 or I LIS1 Platelet-activating factor PAFAH2I2 <BR> <BR> Platelet-activating factor receptor PAFR I Poly (ADP-ribose) synthetase PARS E Polycystic kidney and hepatic disease 1 PKHD1 T Polycystin 1 PKD1 T Polycystin 2 PKD2 T Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N channelQ1KCNQ1NPotassiumvoltage-gated Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N POU domain, class 1, transcription factor 1 POU1 F1 G (Pit1) <BR> <BR> Prekallikrein I Procollagen N-protease E Progesterone receptor (RU486 binding PGR G receptor) Pro-melanin-concentrating hormone PMCH G Proopiomelanocortin POMC N Prostaglandin (PG) D synthase, PGDS E hematopoietic Prostaglandin E2 receptor Prostagiandin-endoperoxidase synthase 2 PTGS2 G Protease inhibitor 1 T Protease nexin 2 PN2 E Protective protein for beta-galactosidase PPGB E Protein C PROC I Protein C inhibitor PCI I Protein S PROS1 Prothrombin precursor F2 I Protoporphyrinogen oxidase PPOX E Purine nucleoside phosphorylase NP E Purinergic receptor P1A1 N Purinergic receptor N Purinergic receptor N <BR> <BR> Purinergic receptor P2X, 1 P2RX1 N Purinergic receptor P2X, 2 P2RX2 N Purinergic receptor P2X, 3 P2RX3 N Purinergic receptor P2RX4N4 Purinergic receptor P2X, 5 P2RX5 N Purinergic receptor P2X, 6 P2RX6 N Purinergic receptor P2X, 7 P2RX7 N Purinergic receptor P2Y, 1 P2RY1 N Purinergic receptor P2Y, 11 P2RY11 N Purinergic receptor P2Y, 2 P2RY2 N Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Pyruvate kinase PKLR E <BR> <BR> Radixin RDX S Renin REN E Replication factor C RFC2 E Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G Retinoic acid receptor, gamma RARG G Retinoid X receptor, alpha RXRA G Retinoid X receptor, beta RXRB G Retinoid X receptor, gamma RXRG G Rhesus blood group, CcEe antigens RHCE T Rhesus blood group, D antigen RHD T Rhesus blood group-associated glycoprotein RHAG T Ribosomal protein S19 RPS19 E <BR> <BR> RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S 100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N <BR> <BR> SA homolog SAH G SAP (SLAM-associated protein) SH2D1A I Secretase, alpha N Secretase, beta N Secretase, gamma N Selectin E SELE N Selectin L SELL N Selectin P SELP N Serotonin receptor, NHTR1A Serotonin receptor, 5HT1BHTR1BN Serotonin receptor, 5HT1CHTR1CN Serotonin receptor, 5HT1DHTR1DN Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1FHTR1FN Serotonin receptor, 5HT2A HTR2AN Serotonin receptor, 5HT2B HTR2BN Serotonin receptor, 5HT2C HTR2CN Serotonin receptor, 5HT3 HTR3N Serotonin receptor, 5HT4 HTR4N Serotonin receptor, 5HT5 HTR5N Serotonin receptor, 5HT6 HTR6N Serotonin receptor, 5HT7 HTR7N Serum amyloid A SAAT Serum amyloid P SAPT <BR> <BR> Sjoegren (Sjogren) syndrome antigen A1 SSA1<BR> <BR> <BR> <BR> <BR> Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1BN <BR> <BR> Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage gated, type IV, SCN4A N alpha polypeptide Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide <BR> <BR> Solute carrierfamily 1 (glutamate SLC1A1 T transporter), member 1 <BR> <BR> Solutecarrierfamily1 (glutamate SLC1A2 T transporter), member 2 <BR> <BR> Solute carrier family 10 (sodium/bile acid SLC10A1 T cotransporter family), member 1 <BR> <BR> Solute carrier family 10 (sodium/bile acid SLC10A2 T cotransporter family), member 2 <BR> <BR> Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T <BR> <BR> Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 2 (facilitated glucose SLC2A2 T transporter), member 2 Solute carrier family 2 (facilitated glucose SLC2A3 T transporter), member 3 Solute carrier family 2 (facilitated glucose SLC2A4 T transporter), member 4 Solute carrier family 2 (facilitated glucose SLC2A5 T transporter), member 5 Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21A3 T Solute carrier family 22, member 5 SLC22A5 T Solute carrier family 3 (facilitated glucose SLC3A1 T transporter), member 1 Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaiine), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 8 (sodium/calcium SLC8A1 T exchanger), member 1 Sonic hedgehog, SHH SHH G Sorcin SRI T Spectrin alpha SPTA1 S Spectrin beta SPTB S Sphingomyelinase SMPD1 E Stem cell factor SCF G Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Steroidogenic acute regulatory protein STAR T Sterol carrier protein 2 SCP2 T Succinate dehydrogenase 1 SDH1 E Succinate dehydrogenase 2 SDH2 E Succinate thiokinase E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfeit 1 SURF1 G Synapsin1a&1b SYN1 N Synapsin 2a & 2b SYN2 N Synaptic vesicle amine transporter SVAT N Synaptobrevin 1 SYB1 N Synaptobrevin 2 SYB2 N <BR> <BR> SynaptogyrinN Synaptophysin SYP N Synaptosomal-associated protein, 25KD SNAP25 N Synaptotagmin 1 SYT1 N Synaptotagmin 2 SYT2 N Syntaxin 1 STX1 N Talin TLN G T-BOX 1 TBX1 G T-BOX 3 TBX3 G TEK, tyrosine kinase, endothelial TEK E Terminal deoxynucleotidyltransferase TDT I Tetranectin TNA T Thioiase, perioxisomal E Thiopurine S-methyltransferase TPMT E <BR> <BR> Thrombin receptor F2R I<BR> <BR> <BR> <BR> <BR> Thrombomodulin THBD I Thrombopoietin THPO G Thrombospondin THBS1 G Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 I Thromboxane A2 receptor TBXA2R I Thy-1 T-cell antigen THY1 I Thymic humoral factor I Thymopoietin TMPO G Thymosin I Thyroid hormone receptor, alpha THRA G Thyroid hormone receptor, beta THRB G TIE receptor tyrosine kinase TIE-1 G Tip-associated protein TAP I Tissue inhibitorof metalloproteinase 1, TIMP1 E TIMP1 Tissue inhibitor of metalloproteinase 2, TIMP2 E TIMP2 Tissue inhibitor of metalloproteinase 3, TIMP3 E TIMP3 Tissue inhibitor of metalloproteinase 4, TIMP4 E TIMP4 Topoisomerase I E Torticollis, keloids, cryptorchidism and renal TKCR G dysplasia gene Transcobalamin 2, TCN2 TCN2 T Transcription factor 2, hepatic TCF2 G Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Translocation in renal carcinoma on TRC8 G chromosome 8 gene Transthyretin TTR T Triosephosphate isomerase TP11 E Tropomyosin 1 alpha TPM1 S Troponin C S Troponin I TNN13 s Troponin T2, cardiac TNNT2 S Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF2 ! associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF4 ! associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 I associated factor 6 <BR> <BR> <BR> Tumour necrosis factor alpha TNFA ! Tumour necrosis factor alpha receptor TNFAR I <BR> <BR> Tumour necrosis factor beta TNFB t Tumour necrosis factor beta receptor TNFBR Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tyrosine hydroxyiase TH E Ubiquitin G Ubiquitin B UBB G Ubiquitin C UBC G UDP-glucose pyrophosphoryiase E UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Uncoupling protein 1 T Uncoupling protein 3 UCP3 T Undulin 1 COL14A1 S <BR> <BR> Uridinediphosphate (UDP)-galactose-4- GALE E epimerase Uroporphyrinogen III synthase UROS E Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vascular endothelial growth factor VEGF G Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Vasoinhibitory peptide G Vimentin VIM I VinculinS Vitamin D receptor VDR G Von Hippel-Lindau gene VHL G Von Willebrand factor VWF T Werner syndrome helicase WRN G Wiskott-Aldrich syndrome protein WASP, THC I Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Wolfram syndrome 1 gene WFS1 S Xanthine dehydrogenase XDH E Zinc finger protein 3 ZIC3 S In a nineth aspect.

GASTROINTESTINAL The present invention relates to a method of assessing the risk of developing clinical or social consequences of dysfunction, damage or disease of the gastrointestinal tract and indicating appropriate therapeutic interventions.

The gastrointestinal tract stores, digests and absorbs nutrients from foodstuffs and eliminates body wastes. The gastrointestinal tract comprises the mouth and salivary glands, oesophagus, stomach, small intestine, large intestine, colon and rectum. In addition the liver, pancreas, kidney, gall bladder and biliary tract also have major roles in the enabling and co-ordination of gastrointestinal function (Weatherall, Leadingham and Warrell 1996).

The regulation of gastrointestinal function is achieved by an extensive series of monitoring and feedback systems which include the intrinsic nerves of the enteric nervous system, vagal and sympathetic nerves, neuropeptides, hormones and transmitters. Together these diverse systems act to link the central nervous system and the components of the gastrointestinal tract in order to co-ordinate and control the processes regulating the absorption of nutrients and the elimination of wastes.

The digestive and absorptive process involved in obtaining nutrients from food stuff and the physical processes involved in the elimination of wastes have given rise to the specialised functions of gastrointestinal tissues. Nutrients in foodstuffs need to be solublised in order for them to be absorbed across the gut wall. Teeth, tongue and the acid environment of the stomach are important in liquidising semi-solid foodstuffs, thus allowing the breakdown of their constituent molecules into extractable nutrients.

Because foodstuffs contain potential pathogens and toxins the gut wall must be capable of defending and repairing itself and the gastrointestinal tract must have a system for rendering harmless potential toxins (the liver). The physical processes involved in moving the liquidised foodstuffs through the gastrointestinal tract involve the integration of muscular activity (circular and longitudinal muscles) such that flow of foodstuffs and subsequent wastes is smooth and largely unidirectional through the system.

Dysfunction, damage or disease of the gastrointestinal tract is characterised by a relatively circumscribed range of symptoms including: Dysphagia Vomiting Mouth, neck or abdominal pain Diarrhoea Constipation Gastrointestinal bleeding Nutritional disorders The diverse nature of the component organs which make up the gastrointestinal tract is mirrored in the range of pathological mechanisms which underlie dysfunction, damage and disease of the gastrointestinal tract. The syndromes and causes of dysfunction, damage and disease of the gastrointestinal system include: Dental caries Ulceration (e. g. mouth, gastric, intestinal) Infection (e. g. herpes simplex, AIDS, helicobacter pylori, hepatitis, shigella) Reflux disease Smooth muscle disease (e. g. scleroderma) Striated muscle disorders (e. g. inclusion body myositis) Tumours Malnutrition Malabsorption (e. g. coeliac disease, Whipples disease) Congenital abnormalities (e. g. oesophageal artresia, Caroli's syndrome) Immune disorders (e. g. allergies, Crohn's disease, ulcerative colitis, irritable bowel syndrome) Disorders of neuronal innervation (Hirschprung's disease) Vascular and collagen disorders Genetic disorders (e. g. haemochromatosis, galactosaemia, Niemann-Pick disease) Bacterial overgrowth Toxins/poisons Drug use and abuse (e. g. Tacrine, Troglitazone, Paracetamol) The range of pathology and thus the impact of such pathology on an individual's quality of life is very broad. A heavy meal can cause a brief episode of discomfort due to excess stomach acid and is easily remedied by taking an appropriate antidote, whereas tumour metastases affecting the liver compromise the de-toxification systems of the body and are a life threatening event. In addition, because the preferred route of administering drug therapy is by the oral route (thus exposing the gastrointestinal system to the drug and relying on absorption through the gut for entry into the body) the pharmacokinetics of many therapeutic interventions are altered by gastrointestinal functionality and associated with adverse events characterised by the symptoms of nausea, diarrhoea etc (Brody, Lamer and Minneman 1998, British National Formulary 1998).

The physiology and control of the body's gastrointestinal system is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from dysfunction, damage or disease of the gastrointestinal tract including genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio-economic circumstances. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to the occurrence of gastrointestinal pathology and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of dysfunction, damage or disease of the gastrointestinal tract.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION GASTROINTESTINAL GENE LIST HUGO gene Protein symbol function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E 17beta hydroxysteroid dehydrogenase 1 HSD17B1 E 17beta hydroxysteroid dehydrogenase 3 HSD17B3 E 17beta hydroxysteroid dehydrogenase 4 HSD17B4 E 17beta hydroxysteroid oxidoreductase E 2,3-bisphosphoglycerate mutase BPGM E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 6-phosphofructo-2-kinase PFKFB1 E Acetoacetyl 1-CoA-thiolase ACAT1 E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyi CoA carboxylase ACC E Acetyl CoA carboxylase alpha ACACA E Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Acid phosphatase 2, lysosomal ACP2 E Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Actin, beta ACTB S Actin, gamma 2 ACTG2 S Acyl CoA dehydrogenase, long chain ACADL E Acyl CoA dehydrogenase, medium chain ACADM E Acyl CoA dehydrogenase, short chain ACADS E Acyl CoA dehydrogenase, very long chain ACADVL E Acyt CoA synthetase, long chain, 1 LACS1 E Acyl CoA synthetase, long chain, 2 LACS2 E Acyl CoA synthetase, long chain, 4 ACS4 E condensingenzymeEAcylmalonyl Acyl-CoA thioesterase E Adaptin, beta 3A ADTB3A T Adenine phosphoribosyltransferase APRT T Adenomatous polyposis coli tumour supressor APC G gene Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptorA2BADORA2BN Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Alanine aminotransferase T <BR> <BR> Alanine-glyoxylate aminotransferase AGXT E Albumin, ALB ALB T Alcohol dehydrogenase 1 ADH1 E <BR> <BR> Alcohol dehydrogenase 2 ADH2 E Alcohol dehydrogenase 3 ADH3 E Alcoholdehydrogenase 4 ADH4 E Alcohol dehydrogenase 5 ADH5 E Alcohol dehydrogenase 6 ADH6 E Alcohol dehydrogenase 7 ADH7 E <BR> <BR> Aldehydedehydrogenase 1 ALDH1 E Aldehyde dehydrogenase 2 ALDH2 E Aldehyde dehydrogenase5 ALDH5 E Aldehyde dehydrogenase 6 ALDH6 E Aldehyde dehydrogenase 7 ALDH7 E <BR> <BR> Aldolase A ALDOA E Aldolase B ALDOB E Aldolase C ALDOC E <BR> <BR> <BR> Aldose reductase T Aldosterone receptor MLR G Alkaline phosphatase, liver/bone/kidney ALPL T Alpha 2 macroglobulin A2M I alpha1-antitrypsin Pl E alpha2-antiplasmin E alpha-actinin 2 ACTN2 G <BR> <BR> alpha-actinin 3 ACTN3 G<BR> <BR> <BR> <BR> <BR> <BR> atpha-amyiaseE<BR> <BR> <BR> <BR> <BR> aipha-dextrinaseE<BR> <BR> <BR> <BR> <BR> a!pha-Ga)actosidaseAGLAE alpha-ketoglutarate dehydrogenaseE <BR> <BR> aipha-L-tduronidasetDUAE<BR> <BR> <BR> <BR> <BR> AminomethyitransferaseAMTE Aminopeptidase PXPNPEP2E Amphiregulin AREG G <BR> <BR> Amylo-1,6-g!ucosidaseAGLE Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T <BR> <BR> AngiotensinogenAGTE Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E AP-2, alpha TFAP2A G AP-2, beta TFAP2B G AP-2, gamma TFAP2C G Apolipoprotein A I APOA1 T Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apoiipoprotein C1APOC1T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein TAPOH Aquaporin TAQP1 Aquaporin 2 AQP2 T Arginine vasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Arginosuccinate lyase ASL E Arginosuccinate synthetase ASS E Aryl hydrocarbon receptor nuclear translocator ARNT T <BR> <BR> Arylsulfatase A ARSA E Arylsulfatase BARSBE Aspartate transaminase T <BR> <BR> AspartytgiucosaminidaseAGAE Ataxia telangiectasia gene, AT ATM G ATP/ADP translocase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Autoimmune regulator, AIRE AIRE Azoospermia factor 1 AZF1 G <BR> <BR> beta 2 microglobulin B2M I beta-galactosidase GLB1 E beta-glucosidase, neutral E beta-Glucuronidase GUSB E beta-ketoacyl reductase E Bile acid coenzyme A: amino acid N-BAAT E acyltransferase Bile salt export pump BSEP, PFIC2 T Bile salt-stimulated lipase CEL E Bilirubin UDP-glucuronosyltransferase E Biliverdin reductase T Bradykinin receptor B1 I Bradykinin receptor B2 I Branched chain keto acid dehydrogenase E1, BCKDHA E alpha polypeptide Branched chain keto acid dehydrogenase E1, BCKDHB E beta polypeptide Brush border guanylyl cyclase E Ca (2+) transporting ATPase, fast twitch ATP2A1 T Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N <BR> <BR> 1D<BR> <BR> <BR> <BR> <BR> Calcium channel, voltage-dependent, Alpha-CACNA1 E N<BR> <BR> <BR> <BR> 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, T-type N Calcium sensing receptor CASR T Calmodulin1 CALM1 G Calmodulin2 CALM2 G <BR> <BR> Calmodulin 3 CALM3 G Calmodulin dependant kinaseT Calmodulin-dependant protein kinase II CAMK2A G Calnexin CANX G Canalicular multispecific organic anion CMOAT T transporter Carbamoylphosphate synthetase 1 CPS1 E Carbamoylphosphate synthetase 2 CPS2 E Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Carboxylesterase 1 CES1 E Carboxypeptidase CPN E Carnitine acylcarnitine translocase CACT E Carnitine palmitoyltransferase I CPT1A E Carnitine palmitoyltransferase 11 CPT2 E Carnitine transporter protein CDSP, SCD T Cartilage-hair hypoplasia gene CHH N <BR> <BR> Catalase CAT I Cathepsin B E Cathepsin D E Cathepsin E E Cathepsin G CTSG E Cathepsin H E Cathepsin K CTSK E Cathepsin L E Cathepsin S E <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> CD4 CD4 I Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-endothelial, LECAM1 G LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G c-erbB2 ERBB2 G c-erbB3 ERBB3 G c-erbB4 ERBB4 G Ceruloplasmin precursor CP E Chemokine receptor CCR2 CCR2 I Chemokine CCR3ICCR3 Chemokine CCR5ICCR5 Chemokine receptor ICXCR4 Chitotriosidase chit E <BR> <BR> Chloride channel 5 CLCN5 S Chloride channel KB CLCNKB S <BR> <BR> Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Cholestasis, progressive familial intrahepatic 1 FIC1 G gene Cholesterol ester hydroxylase E Cholineacetyltransferase CHAT E Chromogranin A CHGA G Chymotrypsinogen E Citrate synthase E Clathrin T Clusterin CLU G CoAtransferase E Cockayne syndrome gene, CKN1 CKN1 G alpha1COL1A1SCollagenI alpha2COL1A2SCollagenI alpha1COL2A1SCollagenII <BR> <BR> Collagen III alpha 1 COL3A1 S Collagen IV COL4A1S1 Collage IV alpha 2 COL4A2 S <BR> <BR> Collagen IV atpha 3 COL4A3 S Collagen IV COL4A4S4 alpha5COL4A5SCollagenIV Collagen 6COL4A6Salpha Collagen IX alpha 2 COL9A2, EDM2 S Collagen IX COL9A3S3 Collagen SCOLR Collagen V alpha 1 COL5A1 S Collagen V alpha 2 COL5A2 S alpha1COL6A1SCollagenVI Collagen VI alpha 2 COL6A2 S Collage Vi alpha 3 COL6A3 S <BR> <BR> Collagen VII alpha 1 COL7A1 S alpha1COL10A1SCollagenX Collagen X alpha 1 COL11A1 S <BR> <BR> Collagen XI alpha 2 COL11A2 S Collagen XVII COL17A1S1 Colony-stimulating factor 1 CSF1 G C1inhibitorC1NHIComplementcomponent Complex I E Complex II E <BR> <BR> Complex I I I E Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T C-reactive protein I Creb binding protein CREBBP G Cu2+ transporting ATPase beta polypeptide ATP7B E Cubilin CUBN T Cyclic AMP-dependent protein kinase PKA E phosphodiesterase1BPDE1BECyclicnucleotide Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E <BR> <BR> Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E CyclinF CCNF G 2CDK2GCyclin-dependentkinase Cyclin-dependent kinase inhibitor 1C (P57, CDKN1C G KIP2) Cyclooxygenase ECOX1 Cyclooxygenase 2 COX2 E ECYP11A1CYP11A1 <BR> <BR> CYP11 B1 CYP11 B1 E ECYP11B2CYP11B2 <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> <BR> CYP19 CYP19 E ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18 CYP2C18 E<BR> <BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E <BR> <BR> CYP3A7CYP3A7E<BR> <BR> <BR> <BR> <BR> CYP4A11CYP4A11E<BR> <BR> <BR> <BR> CYP4B 1 CYP4B 1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E <BR> <BR> CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cysteine-rich intestinal proteinT Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cystinosin CTNS T Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCOE Cytokine-suppressive antiinflammatory ICSBP1 binding protein 1 <BR> <BR> Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 DAX1 nuclear receptor DAX1 I Deleted in colorectal carcinoma DCC G Delta aminolevulinate dehydratase ALAD E Delta (4)-3-oxosteroid 5-beta-reductase E Delta-7-dehydrocholesterol reductase DHCR7 E Dihydrodiol dehydrogenase 1 DDH1 E Dihydrolipoamide branched chain transacylase DBT N <BR> <BR> Dihydrolipoamide dehydrogenase DLD N DNA glycosylases E Dopamine beta hydroxylase DBH E Dopamine receptors NDRD1 Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Dynamin DNM1 G Dynein G Dystrophia myotonica DM, DMPK E Dystrophia myotonica, atypical DM2 E <BR> <BR> Dystrophin DMD S EB1 G Elastase 1 ELAS1 E Elastase 2 ELAS2 E Electron-transfering-flavoprotein alpha ETFA T Electron-transfering-flavoprotein beta ETFB T Electron-transferring flavoprotein ETFDH E dehydrogenase Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N Enolase EN01 E Enoyl CoA isomerase E Enoyl CoA reductase E Enteric lipase T Enterokinase PRSS7, ENTK E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Erythrocyte membrane protein band 4.1 EPB41 S Erythropoietin EPO I Excision repair complementation group 2 ERCC2 E protein Excision repair complementation group 2 ERCC3 E protein Eyes absent 1 EYA1 G Faciogenital dysplasia FGD1, FGDY T Factor 1 (No. one) F1 I Factor B, properdin I Factor D I Factor H HF1 I Factor I (letter 1) IF I Factor III F3 I <BR> <BR> <BR> Factor IX F9 I Factor V F5 I Factor IF7 Factor VIII F8 I Factor X F10 I Factor Xi F11 I Factor XII F12 I Factor XIII A & B F13A & F13B I FADH dehydrogenase E Fanconi anemia, complementation group A FANCA T Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fatty acid binding proteins FABP1T Fatty acid binding proteins FABP2 FABP2 T Fatty acid binding proteins FABP3T Fatty acid binding proteins FABP4T Fatty acid binding proteins FABP5T Fatty acid binding proteins FABP6T Ferritin, H subunit T Ferritin, L subunit FTL T Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Flavin-containing monooxygenase 1FM01E Flavin-containing monooxygenase 2 FM02 E Flavin-containing monooxygenase 3 FM03 E Flavin-containing monooxygenase 4 FM04 E <BR> <BR> Folic acid receptor FOLR G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Forkhead transcription factor 10 FKHL10 G Forkhead transcription factor 14 FKHL14 G Fragile site, folic acid type, rare, fra (X) A FRAXA N Fructose-1,6-diphosphatase FBP1 E Fucosidase alpha-L-1 FUCA1 E Fucosidase alpha-L-2 E Fucosyltransferase 2 FUT2 T Fucosyitransferase 3 FUT3 T Fumarase FH E G/T mismatch binding protein GTBP, MSH6 G <BR> <BR> Galactocerebrosidase GALC E<BR> <BR> <BR> <BR> <BR> <BR> Galactose 1-phosphate uridyl-transferase GALT E<BR> <BR> <BR> <BR> <BR> <BR> Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1, 3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyltransferase 1 GGT1 T Gamma-glutamyltransferase 2 GGT2 T Gap junction protein beta 1 GJB1 T Gastric inhibitory polypeptide GIP GIP T Gastric inhibitory polypeptide receptor, GIPR GIPR T Gastric intrinsic factor, GIF GIF E Gastric lipase, LIPF T Gastrin GAS G Gastrin releasing peptide GRP T Gastrin releasing peptide receptor GRPR T Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glucagon receptor GCGR G Glucagon synthase T Glucagon-like peptide receptor 1 GLP1 R G Glucokinase GCK E Glucose-6-phosphatase G6PC E <BR> <BR> Glucose-6-phosphatase translocase G6PT1 E G6PDEGlucose-6-ohosphatedehydrogenase Glucosidase, acid alpha GAA E Glutamate dehydrogenase GLUD1 E Glutamine synthase E Glutamine transporter T Glutathione GSH T Glutathione peroxidase, GPX2 GPX2 E Glutathione S-transferase, GSTZ1 GSTZ1 E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine dehydrogenase GLDC E Glycogen branching enzyme GBE1 E Glycogen phosphorylase PYGL E Glycogen synthase 1 (muscle) GLYS1 E Glycogen synthase 2 (liver) GYS2 E Glycosyltransferases, ABO blood group ABO E Gonadotropin releasing hormone GNRH G Goosecoid GSC G Growth arrest-specific homeobox GAX G Growth hormone receptor GHR G Guanylin GUCA2 T H (+), K (+)-ATPase ATP4B N Haem oxygenase T Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Heat shock protein, HSP60 <BR> <BR> Heat shock protein, HSP70 ! Heat shock protein, HSP90 Heat shock protein, HSPA1 Heat shock protein, HSPA2 I Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G <BR> <BR> Heparin Cofactor 11 HCF2 I Hepatic nuclear factor-3-beta HNF3B E Hepatic nuclear factor-4-alpha HNF4A E Hepatitis B virus integration site 1HVBS1j Hepatitis B virus integration site 2HVBS6! Hepatocyte growth factor HGF G Hermansky-pudlak syndrome gene HPS T Hexokinase 1 HK1 E Hexokinase 2 HK2 E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N Histatin I Histatin I Histatin 3 HTN3 HLA-B associated transcript 1 BAT1 HMG-CoA lyase HMGCL E HMG-CoA reductase HMGCR E HMG-CoA synthase HMGCS2 E Holocarboxylase synthetase HLCS E Hormone-sensitive lipase HSL E Hydroxyacyl glutathione hydrolase HAGH E Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT IC7 A and B I Iduronate 2 sulphatase IDS E Immunoglobulin E (IgE) reponsiveness gene IGER I Immunoglobulin E (IgE) serum concentration IGES I regulator gene <BR> <BR> Immunoglobulin gamma (IgG) 2 IGHG2 I<BR> <BR> <BR> <BR> Immunoglobulin heavy mu chain IGHM I Immunoglobulin J polypeptide IGJ I Immunoglobulin kappa constant region IGKC I Immunoglobulin kappa variable region IGKV I Inhibin, alpha INHA G Inhibin, beta A INHBA G Inhibin, beta B INHBB G Inhibin, beta C INHBC G Inositol 1,4,5-triphosphate receptor 3 ITPR3 G Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G tntegrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin beta 6 ITGB6 G Integrin, alpha M ITGAM G Integrin, alpha X ITGAX G Inter-alpha-trypsin inhibitor, IATI E Interferon IIFNA1 Interferon beta IFNB I Interferon gamma I Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I Interferon regulatory factor 1 IRF1 I Interferon 4IRF4Ifactor receptorIL1RIInterleukin(IL)1 alphaIL1AIInterleukin(IL)1, betaIL1BIInterleukin(IL)1, Interleukin (IL) 10 IL10 I Interleukin (iL) 10 receptor IL10R I IL11Interleukin(IL)11 Interleukin (iL) 11 receptor IL11R I IL12IInterleukin(IL)12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I Interleukin(IL) IIL13 receptorIL13RIInterluekin(IL)13 IL2IInterleukin(IL)2 Interleukin (IL) 2 receptor, alpha IL2RA I Interleukin (IL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 Interleukin (IL) 3 receptor IL3R I Interleukin (IL) 4 IL4 I Interleukin (IL) 4 receptor IL4R I Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R I IL7IInterleukin(IL)7 Interleukin(IL) 7 IIL7R <BR> <BR> Interleukin (IL) 8 IL8 I Interleukin (IL) 8 receptor IL8R I IL9Iinterleukin(IL)9 Interleukin(IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1RN, IL1RA I Intestinal alkaline phosphatase IAP T polypeptideIAPPNIsletamyloid EIsocitratedehydrogenase Isovaleric acid CoA dehydrogenase IVD E Kallikrein 3 KAK3 I Kallman syndrome gene 1 KAL1 G Ketohexokinase KHK E ketolase E Kininogen, High molecular weight KNG I Kynureninehydroxylase E Kynureninease E Lactase E Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G LamininM LAMM G Lamininreceptor 1 LAMR1 G Latent transforming growth factor-beta binding LTBP2 G protein 2 Lecithin-cholesterol acyltransferase LCAT E Leptin LEP G Leptinreceptor LEPR G <BR> <BR> Leukocyte-specific transcript 1 LST-1 I Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor I LIM homeobox protein 1 LHX1 G LIM homeobox transcription factor 1, beta LMX1 B G Lipoamidedehydrogenase OGDH E Lipoproteinlipase LPL I Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Intermediate Density T Lipoprotein, Low Density 1 T Lipoprotein, Low Density 2 T Lipoprotein, Very Low Density VLDLR T Low density lipoprotein receptor-related protein LRP T precursor Lymphoidenhancer-binding factor LEF-1 G Lysosomal acid lipase LIPA E Lysozyme LYZ I MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 MADS box transcription-enhancer factor 2A MEF2A G MADS box transcription-enhancer factor 2B MEF2B G MADS box transcription-enhancer factor 2C MEF2C G MADS box transcription-enhancer factor 2D MEF2D G Malonyl CoA decarboxylase E Malonyl CoA transferase E Maltase-glucoamylase E Mannosidase, alpha B lysosomal MANB E Marenostrin MEFV T MAX-interacting protein 1 MX ! 1 G MEK kinase, MEKK E Melanocortin 2 receptor MC2R T Melanocortin 4 receptor MC4R T Menin MEN1 G Metallothionein T Mevalonate kinase MVK E <BR> <BR> <BR> MHC Class l : A MHC Class I : B <BR> <BR> <BR> MHC Class I : C I:LMP-2,LMP-7IMHCClass I:Tap1ABCR,TAP1IMHCClass <BR> <BR> MHC Class ll: DP HLA-DPB1 I<BR> <BR> <BR> <BR> <BR> MHC Class II: DQ I<BR> <BR> <BR> <BR> <BR> <BR> MHC Class II: DR I MHC Class il: Tap2 TAP2, PSF2 I MHC Class II: Complementation group A MHC2TA I MHC Class BrfxankIgroup MHC Class lI: Complementation group C RFX5I MHC Class lI: Complementation group D RFXAPI Microsomal triglyceride transfer protein MTP T Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta subunit HADHB E Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Motilin MLN G Msh homeobox homolog 2 MSX2 G Mucin 18 MUC18 T Mucin, MUC2 T Mucin, MUC5AC T Mucin, MUC6 T Mucolipidoses GNPTA E Mulibrey nanism MUL T Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Muscle phosphorylase PYGM E Mutated in colorectal cancers, MCC MCC G MutL homolog 1 MLH1 G MutS homolog 2 MSH2 G MutS homolog 3 MSH3 G <BR> <BR> MyogtobinT Myosin 15 MY015 S <BR> <BR> Myosin5AMY05AS<BR> <BR> <BR> <BR> <BR> Myosin6MY06S<BR> <BR> <BR> <BR> Myosin7AMY07AS Myosin, cardiacMYH7S Myosin, lightchain 2 MYL2 S Myosin, lightchain 3 MYL3 S <BR> <BR> Myotubularin MTM1 S Na+, alphaATP1A1GATPase, Na+, K+ ATPase, beta 1 ATP1B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ exchanger 1 NHE1 T Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T Na+coupied glucose/galactose transporter T N-acetylgalactosamine-6-sulfate sulfatase GALNS E N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E NADH dehydrogenase E NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 E protein 1 NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 E protein 4 NADH dehydrogenase (ubiquinone) NDUFV1 E flavoprotein 1 NADH-cytochrome b5 reductase DIA1 E NADPH-dependent cytochrome P450 POR E reductase NB6i <BR> <BR> Nephrolithiasis 2 NPHL2 T Nephronophthisis 1 NPHP1 T Nephronophthisis 2 NPHP2 T Nephrosis 1 NPHS1 T Nerve growth factor NGF G Nerve growth factor receptor NGFR G <BR> <BR> Neuraminidase sialidase NEU T Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurokinin A NKNA N Neurokinin B NKNB N Neurotensin NTS N Neurotensin receptor NTSR1 N Notch ligand-jagged 1 JAG1, AGS G NucleargeneIKBLII-kappa-B-like Oncogene ERB G Oncogene ERB2 G Oncogene ERBA G Oncogene ERBAL2 G Oncogene GLI1 GLI G Oncogene GL12 GL12 G Oncogene GL13 GL13 G Oncogene met MET G Oncogene myb MYB G Oncogene myc MYC G Oncogene n-myc G Oncogene ret RET G Oncogene r-myc G Oncogene sis PDGFB G Oncogene spi 1 G Oncogene src G Oncogene v-Ki-ras2 KRAS2 G <BR> <BR> Orexin OX G Orexin 1 GOX1R Orexin 2 receptor OX2R G Ornithine transcarbamoylase OTC, NME1 E Osteopontin OPN G Paired box homeotic gene 2 PAX2 G Paired box homeotic gene 3 PAX3 G Paired box homeotic gene 6 PAX6 G Paired box homeotic gene 8 PAX8 G Palmitoyl-proteinthioesterase PPT T Pancreatic amylase E Pancreatic colipase T Pancreatic lipase PNLIP E Pancreatic lipase related protein 1 PLRP1 E Pancreatic lipase related protein 2 PLRP2 E Paraoxonase PON1 PON1 E Paraoxonase PON2 PON2 E Paraoxonase PON3 E Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G Parvalbumin PVALB G Patched (Drosophila) homolog, PTCH PTCH G Pepsin T Pepsinogen E Peptidases A T Peptidases B T Peptidases C T Peptidases D PEPD T Peptidases E T Peptidases S T Peroxidase, salivary SAPX E Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome receptor 1 PXR1 T Phenyiaianine monooxygenase E Phosphatase & tensin homolog PTEN G Phosphate regulating gene with homologies to PHEX G endopeptidases on the X chromosome Phosphoenolpyruvate carboxykinase PCK1 E Phosphofructokinase, liver PFKL E Phosphofructokinase, muscle PFKM E Phosphoglucomutase E Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phosphoglycerate mutase 2 PGAM2 E Phospholipase A2, group 10 PLA2G10 Phospholipase A2, group 1 B PLA2G1 B I Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I <BR> <BR> Phospholipase A2, group 6 PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Phosphomannomutase 2 PMM2 G Phosphomannomutase-2 PMM2 T Phosphomannose isomerase-1, PM11 MPI T Phosphoribosyl pyrophosphate synthetase PRPS1 E Phosphorylase kinase deficiency, liver PHK E Phosphorylase kinase, alpha 1 (muscle) PHKA1 E Phosphoryiase kinase, alpha 2 PHKA2 E kPhosphorylase kinase, beta PHKB E Phosphorylase kinase, delta E Phosphorylase kinase, gamma 2 PHKG2 E Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PA12 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Piateiet monamine oxidase T <BR> <BR> Platelet-activating factor receptor PAFR I Polycystic kidney and hepatic disease 1 PKHD1 T Polycystin 1 PKD1 T Polycystin 2 PKD2 T Polymorphonuclear e!astaseT Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel E1 KCNE1 N <BR> <BR> Prekaitikreini Preproenkephalin PENK N Preproglucagon GCG; GLP1; GLP2 G <BR> <BR> PreprogiucagonT Preproinsulin T Procollagen N-protease E Proline dehydrogenase PRODH E Proline-rich protein BstNI subfamily 1 PRB1 S Proline-rich protein BstNI subfamily 3 PRB3 S Proline-rich protein BstNI subfamily 4 PRB4 S Prolyl-4-hydroxylase E Pro-melanin-concentrating hormone PMCH G Proopiomelanocortin POMC N Prosaposin PSAP N Prostacyclin synthase I Prostaglandin 15-OH dehydrogenase HGPD; PGDH I Prostaglandin D-DP receptor I Prostaglandin E1 receptor I Prostaglandin E2 receptor I Prostaglandin E3 receptor I Prostaglandin F-FP receptor I Prostaglandin F2 alpha receptor I Prostagiandin 12 receptor T <BR> <BR> Prostagiandin IP receptor I Protease inhibitor 1 T Protective protein for beta-galactosidase PPGB E Protein C PROC I Protein C inhibitor PCI I Protein kinase B PRKB <BR> <BR> Protein S PROS1 I Protein tyrosine phosphatase, non-receptor PTPN12 G type 12 Prothrombin precursor F2I Pterin-4-alpha-carbinolamine PCBD Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Pyruvate kinase PKLR E Quinoid dihydropteridine reductase QDPR E Renal glutaminase T Renin REN E Replication factor C RFC2 E Retinoblastoma 1 RB1 G Retinol binding protein 1 T Retinol binding protein 2 T Retinoschisis, X-linked, juvenile RS G RIGUI RIGUI G SA homolog SAH G Salivary amylase, AMY1 T SAP (SLAM-associated protein) SH2D1A Secretin SCT T Secretin receptor, SCTR SCTR T Serotonin receptor, NHTR1A Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage-gated, type 1, beta SCN1 B N polypeptide Solute carrier family 10 (sodium/bile acid SLC10A1 T cotransporter family), member 1 Solute carrier family 10 (sodium/bile acid SLC10A2 T cotransporter family), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 14, member 2 SLC14A2 T Solute carrier family 15 (H+/peptide SLC15A1 T transporter, intestinal), member 1 Solute carrier family 15 (H+/peptide SLC15A2 T transporter, kidney), member 2 Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 17, member 1 SLC17A1 T Solute carrier family 17, member 2 SLC17A2 T Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 2 (facilitated glucose SLC2A2 T transporter), member 2 Solute carrier family 2 (facilitated glucose SLC2A3 T transporter), member 3 Solute carrier family 2 (facilitated glucose SLC2A4 T transporter), member 4 Solute carrier family 2 (facilitated glucose SLC2A5 T transporter), member 5 Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21 A3 T Solute carrier family 22, member 1 SLC22A1 T Solute carrier family 22, member 2 SLC22A2 T Solute carrier family 22, member 5 SLC22A5 T Solute carrier family 3 (facilitated glucose SLC3A1 T transporter), member 1 Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6, member 6 SLC6A6 T Solute carrier family 7 (amino acid transporter), SLC7A1 T member 1 Solute carrier family 7 (amino acid transporter), SLC7A2 T member 2 Solute carrier family 7 (amino acid transporter), SLC7A7 T member 7 Somatostatin SST N Somatostatin receptor, SSTR1 SSTR1 N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N <BR> <BR> Sphingomyelinase SMPD1 E Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Sterol carrier protein 2 SCP2 T Substance P N Succinyl CoA synthase E Sucrase E <BR> <BR> <BR> Sucrase-isomaltase Sl T Superoxide dismutase 1 SOD1 E Surfeit 1 SURF1 G <BR> <BR> <BR> Talin TLN G<BR> <BR> <BR> <BR> Talin, TLN S TATA binding protein TBP G T-BOX 1 TBX1 G T-BOX2 TBX2 G <BR> <BR> <BR> T-BOX3 TBX3 G Thiolase, perioxisomal E Thrombin receptor F2R I Thrombopoietin THPO G Thromboxane A synthase 1 TBXAS1 Tip-associated protein TAP Topoisomerase I E Torticollis, keloids, cryptorchidism and renal TKCR G dysplasia gene Transacylase E Transcobalamin 1, TCN1 T <BR> <BR> Transcobalamin 2, TCN2 TCN2 T Transcription factor 1, hepatic TCF1 G Transcription factor 2, hepatic TCF2 G Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Transglutaminase 4 TGM4 G <BR> <BR> Transketolase TKT E<BR> <BR> <BR> <BR> <BR> Transketolase-like 1 TKTL1 E Translocation in renal carcinoma on TRC8 G chromosome 8 gene Transthyretin TTR T TrehaiaseT Triosephosphate isomerase TP)1E Trypsin inhibitor E Trypsinogen 1 TRY1E Trypsinogen 2 TRY2 E Trypsinogen activation peptide T Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF2 t associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 <BR> <BR> <BR> Tumour necrosis factor alpha TNFA !<BR> <BR> <BR> <BR> <BR> <BR> Tumour necrosis factor alpha receptor TNFAR ! Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tumour suppresssor gene DRA DRA I Tyrosinase TYR E UDP-glucose pyrophosphorylase E UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Uroporphyrinogen decarboxylase UROD E Uroporphyrinogen III synthase UROS E Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Vasoinhibitory peptide G <BR> <BR> Villin S Von Hippel-Lindau gene VHL G Von Willebrand factor VWF T Wiskott-Aldrich syndrome protein WASP, THC I Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Wolfram syndrome 1 gene WFS1 S Xanthine dehydrogenase XDH E Xeroderma pigmentosum, complementation XPA E group A Xeroderma pigmentosum, complementation XPB E group B Xeroderma pigmentosum, complementation XPC E group C Xeroderma pigmentosum, complementation E group D Xeroderma pigmentosum, complementation E group E Xeroderma pigmentosum, complementation XPF E group F Xeroderma pigmentosum, complementation ERCC5 E group G Zinc finger protein 3 ZIC3 S In a tenth aspect.

RESPIRATORY SYSTEM The present invention relates to a method of assessing the risk of developing clinical or social consequences following dysfunction, damage or disease of the respiratory system and indicating appropriate therapeutic interventions.

The human body has an absolute requirement for oxygen in order to carry out the basic metabolic processes required for survival. The portal of entry for oxygen is the respiratory system (mouth, nose, trachea, bronchi, bronchioles, alveoli and the vascular elements which transport oxygen, pulmonary arteries, veins, capillaries and lymphatic tissues). The respiratory system is required to work 24 hours a day for a lifetime. Despite the exposure of the respiratory system to pollution and airborne pathogens the systems capacity for defence and repair enables it to ward off pathology and continue normal function. However, excessive pollution or a compromised defence system will lead to damage and disease. For example, smoking which is now known to damage lung function leading to infection and tumourigenesis, and defects such as cystic fibrosis where mutations in lung proteins lead to a compromise in function and susceptibility to infections.

The major functions of the respiratory system include: jumping gases into and out of the body.

* Gas exchange (oxygen into the body and carbon dioxide out of the body).

* Matching oxygen supply to bodily requirements.

These functional requirements place considerable demands on the structural organisation of the lungs. In order to facilitate gas exchange the surface area of air /blood contact must be as large as possible (the surface area of the lungs is almost the size of a tennis court, Weatherall, Leadingham and Warrell 1996). In addition, the tissue barrier between air and blood must be as thin as possible. These requirements lead directly to the specialised structures seen the tissues of the respiratory system.

The specialised tissues mediating air/blood contact (alveoli) need to be supported during the pumping movements of the lung and this is achieved by the presence of the peripheral fibre system which encases the tissues (in close aposition to blood vessels) from the hilum to the visceral pleura. The tissues which make up the gas exchange surface in the alveoli must be capable of allowing blood access to the oxygen and of defending and repairing themselves when damaged by airborne contaminants or pathogens. The alveoli are composed of three layers of cells, the epithelium (lining the air spaces composed of type I and type II-secretory cells), an interstitial layer housing the connective tissue and an endothelium lining the capillaries. In addition there are alveolar macrophages which represent a core feature of the tissue defence system. One of the important aspects of type II cell function is the secretion of surfactants (primarily DPPC-dipalmitoylphosphatidylcholine with a number of apoproteins SP-A, SP-B, SP-C)) which act to reduce the surface tension at the air water interface and prevent the surfaces of the alveoli sticking to each other. The control of surfactant synthesis and its removal are tightly regulated (by neurohumoral pathways and vagal stimulation). The control of surfactant production is particularly important in the foetus during lung development.

Alveolar macrophages are present within the liquid layer of surfactant. These cells act as the first line of defence in order to intercept and remove unwanted or foreign materials on the surface of the lungs. They co-operate in their defence activity with interstitial macrophages, histiocytes, leucocytes, and mast cells.

In situations where alveolar cell activity cannot cope with environmental damage (e. g. inhalation of toxic fumes, massive blood loss) the epithelium can become damaged beyond its capacity to repair and so the alveoli become oedematous leading to a loss of the gas exchange function. This situation requires intensive medical management and in many cases will lead to permanent loss of lung functionality. The situation can be excaberated if there is a significant inflammatory reaction within the lung tissues (e. g. chronic bronchitis, emphysema, asthma, lung transplant rejection etc.).

The lung has a series of'housekeeping'processes which are essential in order to maintain its normal function (Weatherall, Leadingham and Warrell 1996): * Surfactant synthesis and release in order to promote and maintain a low surface tension in alveoli.

* Clearance of particulate matter and identification of potential pathological inflammatory reactions and pathogens.

* Regulation of smooth muscle tone in vascular walls and lung tissues.

* Clearance of fluids to prevent oedema.

* Regulation of hormones in the pulmonary capillary endothelium.

Failure to maintain normal housekeeping functions can lead to a wide variety of conditions such as chronic obstructive pulmonary disease, asthma, diffuse interstitial fibrosis, alveolar filling, adult respiratory distress syndrome, pulmonary vascular disease. Such houskeeping functions are also readily compromised by the presence of tumours within the respiratory system.

The effect of dysfunction, damage or disease in the respiratory system will often manifest itself as cough (a defensive reflex designed to clear the lower respiratory tract), breathlessnes (this symptom ranges from shortness of breath following exercise to severe breathing problems whilst lying in bed) and chest pain (only the upper respiratory tract and parietal pleura are sensitive to pain). Further detailed examination of the patient including an assessment of other physical signs (e. g. abnormalities in shape of chest wall, cyanosis, clubbing of fingers, eczema, uticaria, sarcoidosis, tuberous sclerosis, abnormalities in the cardiovascular system or swelling in the lymphatic system) and imaging studies in order to identify specific syndromes or diseases.

The clinical spectrum of the dysfunction, damage and disease of the respiratory system is broad and includes: Allergic rhinitis ('hay fever').

Airway obstruction (e. g tumours, foreign body).

Asthma.

Cystic fibrosis.

Bronchiectasis.

Chronic obstructive pulmonary disease.

Diffuse parenchymal lung disease.

Cryptogenic fibrosing alveolitis.

Pulmonary vasculitis.

Pulmonary haemorrhagic disorders.

Allergic alveolitis.

Sarcoidosis.

Toxin induced damage.

Pleural disease.

Scoliosis.

Neoplasia.

Sleep related apnoea's Upper respiratory tract infections (e. g. Coxsackie A, echovirus, influenza, coronavirus, mycoplasma, staphylococcus).

Lower respiratory tract infections (e. g. respiratory syncitial virus, influenza, measles, rhinovirus, pneumococcus, legionella, mycoplasma, tuberculosis).

Some groups of patients such as those with AIDS, or undergoing immunosuppression therapy following transplants or chemotherapy are particularly susceptible to infections of the respiratory system. Pulmonary involvement can also be prominent in systemic collagen-vascular diseases (e. g. rheumatoid arthritis, systemic lupus erythromatosus, ankylosing spondylitis).

Therapeutic approaches to dysfunction, damage and disease of the respiratory system include, antibiotics, antiviral agents, cytotoxic chemotherapy (for lung tumours), anti- inflammatory therapies (for asthma) and approaches to gene therapy (for inherited disorders such as cystic fibrosis). In addition surgical approaches such as resection or transplantation dramatically improve the chances of survival of patients with disorders such as lung cancer and pulmonary hypertension (although the issue of tissue rejection remains a problem). In cases where surgery or transplantation is inappropriate (e. g deep coma following head injury, in patients with respiratory failure due to muscular or skeletal disorders or in patients undergoing chest surgery) machine assisted ventilation has made significant progress.

However, many of these drugs also have side-effects such as sedation, orthostatic hypertension, sexual dysfunction, reflex tachycardia and impaired cognition (Brody, Lamer and Minneman 1998, British National Formulary 1998). As a result of the side effects and the disordered mental state of many patients compliance in drug therapy is a significant issue in healthcare management. Such problems can be greatly magnified when dealing with patients with a personality disorder.

The physiology and control of the body's respiratory system is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from clinical or social consequences following dysfunction, damage or disease of the respiratory system including genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio-economic circumstances.

Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to the occurrence of dysfunction, damage or disease of the respiratory system and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of respiratory system dysfunction, damage and disease.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION RESPIRATORY GENE LIST HUGO gene Protein symbol function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E 2,3-bisphosphoglycerate mutase BPGM E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E Acetoacetyl 1-CoA-thiolase ACAT1 E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyl CoA synthase E Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Aconitase E Acyl CoAdehydrogenase, long chain ACADL E Acyl CoA dehydrogenase, medium chain ACADM E Acyl CoA dehydrogenase, short chain ACADS E Acyl CoA dehydrogenase, very long chain ACADVL E Adaptin, beta 3A ADTB3A T Adenosine deaminase ADA E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyciase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T Alcohol dehydrogenase 1 ADH1 E Alcoholdehydrogenase 2 ADH2 E Alcohol dehydrogenase 3 ADH3 E Alcohol dehydrogenase 4 ADH4 E Alcohol dehydrogenase 5 ADH5 E <BR> <BR> Alcohol dehydrogenase 6 ADH6 E Alcohol dehydrogenase 7 ADH7 E <BR> <BR> Aldolase A ALDOA E<BR> <BR> <BR> <BR> <BR> Aldolase B ALDOB E Aldolase C ALDOC E Aldosterone receptor MLR G <BR> <BR> Alpha 2 macroglobulin A2M I alpha1-antichymotrypsin AACT E aipha1-antitrypsin Pl E alpha2-antiplasmin PLI E alpha-actinin2 ACTN2 G alpha-actinin3 ACTN3 G alpha-Galactosidase A GLA E alpha-ketoglutarate dehydrogenase E Aminopeptidase P XPNPEP2 E Amphiregulin AREG G Androgen receptor AR G Angiopoietin1 ANGPT1 G Angiopoietin2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Annexin 1 ANX 1 Antidiuretic hormone receptor ADHR T Antithrombin III AT3 E Apolipoprotein E APOE T Arginase ARG 1 E Arginine vasopressin AVPN Arginine vasopressin receptor 1AAVPR1AN Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Arginosuccinate lyase ASL E Arylsulfatase D ARSD E Arylsulfatase E ARSE E Arylsulfatase F ARSF E Asparatate transaminase T Ataxia telangiectasia gene, AT ATM G ATP/ADP translocase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G beta-galactosidase GLB1 E beta-Glucuronidase GUSB E Biotinidase BTD E Bloom syndrome protein BLM G Bradykinin receptor B1 ! <BR> <BR> Bradykinin receptor B2 ! Butyrylcholinesterase BCHE E C1 inhibitor E Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calcitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha CACNA1 F N 1 F subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1 C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calnexin CANX G Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Carnitine acetyltransferase CRAT E translocaseCACTECarnitineacylcarnitine Catalase CAT I Cathepsin B E Cathepsin D E Cathepsin E E Cathepsin G CTSG E Cathepsin H E Cathepsin K CTSK E Cathepsin L E Cathepsin S E <BR> <BR> CD1 CD1 I<BR> <BR> <BR> <BR> <BR> CD4 CD4 I Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-LECAM1 G endothelial, LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G Chemokine receptor CXCR4 CXCR4 I Chitotriosidase chit E <BR> <BR> <BR> Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Choline acetyltransferase CHAT E Citrate synthase E Coenzyme Q E <BR> <BR> Collagen I alpha 1 COL1A1 S<BR> <BR> <BR> <BR> <BR> Collagen I alpha 2 COL1A2 S<BR> <BR> <BR> <BR> <BR> Collagen II alpha 1 COL2A1 S<BR> <BR> <BR> <BR> <BR> Collagen III alpha 1 COL3A1 S Collage IV alpha 1 COL4A1 S Collagen 2COL4A2Salpha Collagen IV alpha 3 COL4A3 S Collagen IV alpha 4 COL4A4 S Collagen 5COL4A5Salpha Collagen 6COL4A6Salpha Collagen IX alpha 2 COL9A2, EDM2 S Collagen 3COL9A3Salpha COLRSCollagenreceptor <BR> <BR> CollagenValpha 1 COL5A1 S Collagen V alpha 2 COL5A2 S Collagen VI alpha 1 COL6A1 S Collagen VI alpha 2 COL6A2 S Collagen VI alpha 3 COL6A3 S Collagen VII alpha 1 COL7A1 S Collagen X alpha 1 COL10A1 S Collagen X alpha 1 COL11A1 S Collagen XI alpha 2 COL11A2 S CollagenCollagenXVII alpha SCOL17A1 Colony-stimulating factor 1 CSF1 G Colony-stimulating factor 1 receptor CSF1 R G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Colony-stimulating factor 2 beta receptor CSF2RB G Colony-stimulating factor 3 CSF3 G Colony-stimulating factor 3 receptor CSF3R G C1inhibitorC1NHIComplementcomponent Complement component C1qa C1QA Complement component C1 qb C1 QB I Complement component C1qg C1QG I Complement component C1 r C1R I Complement component C1s C1S Complement component C2 C2 Complement component C3 C3 Complement component C4A C4A <BR> <BR> Complement component C4B C4B Complement component C5 C5 Complement component C6 C6 Complement component C7 C7 I Complement component C8 C8B I Complement component C9 C9 Complement component receptor 1 CR1 Complement component receptor 2 CR2 Complement component receptor 3 CR3 Complex I E Complex E Complex E complex E Complex V MTATP6 E Coproporphyrinogen oxidase CPO E Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T <BR> <BR> Cortisoi receptor I C-reactive protein CRP I Creatine kinase-B and m CKBE E Creb binding protein CREBBP G Cu2+ transporting ATPase alpha polypeptide ATP7A E Cyclic AMP-dependent protein kinase PKA E Cyclic nucleotide phosphodiesterase 1 B PDE1 B E Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E <BR> <BR> Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclin-dependent kinase GCDK2 Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E ECYP11A1CYP11A1 ECYP11B1CYP11B1 ECYP11B2CYP11B2 <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> CYP19 CYP19 E ECYP11A1CYP11A1 <BR> <BR> CYP1A2 CYP1A2 E ECYP11B1CYP11B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18 CYP2C18 E<BR> <BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E <BR> <BR> CYP3A4CYP3A4E<BR> <BR> <BR> <BR> <BR> CYP3A5CYP3A5E<BR> <BR> <BR> <BR> CYP3A7CYP3A7E ECPY4A11CYP4A11 <BR> <BR> CYP4B1 CYP4B1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cytidinedeaminase CDA E <BR> <BR> Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome b-245 alpha CYBA E Cytochrome b-245 beta CYBB E Cytochrome b-5 CYB5 E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 I binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 DAX1 nuclear IDAX1 D-beta-hydroxybutyratedehydrogenase E Delta 4-5 alpha-reductase E SDesminDES <BR> <BR> Dihydrolipoamide dehydrogenase DLD N DNAglycosylases E Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N <BR> <BR> Dystrophin DMD S Elastase EELAS1 Elastase 2 ELAS2 E SElastinELN Electron-transfering-flavoprotein atphaETFAT Electron-transfering-flavoprotein betaETFBT <BR> <BR> Etectron-transferringfiavoproteinETFDHE dehydrogenase Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin BEDNRBNtype Enolase EN01 E Enoy) CoA hydratas Enoyl CoA isomerase E Enoyl CoA reductase E Enterokinase PRSS7, ENTK E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Epoxide hydrolase 1, microsomal EPHX1 E Estrogen receptor ESR G EWS RNA-binding protein EWSR1 G Eyes absent 1 EYA1 G Faciogenital dysplasia FGD1, FGDY T Factor 1 (No. one) F1 Factor B, properdinI Factor D Factor H HF1 Factor I (letter 1) IF I Factor III F3 I <BR> <BR> <BR> Factor IX F9 I Factor V F5 I Factor VII F7 I Factor VIII F8 I Factory IF10 Factor Xl F11 Factor X ! ! F12 I A&BF13A&F13BIFactorXIII Fc fragment of IgG, high affinity IA, receptor FCGR1A G for Fc fragment of IgG, low affinity Ila, receptor FCGR2A G for (CD32) Fc fragment of IgG, low affinity Illa, receptor FCGR3A G for (CD16) Fibrillin 1 FBN1 G Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen SFGG Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G <BR> <BR> Flightless-11, Drosophila homolog of FLII G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Forkhead rhabdomyosarcoma gene FKHR G Fructose-1,6-diphosphatase FBP1 E Furin T GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABAtransaminase ABAT E <BR> <BR> Galactocerebrosidase GALC E Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1,3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Glucocorticoid receptor GRL G <BR> <BR> Glucokinase GCK E Glucosidase, acid alpha GAA E Glutamate dehydrogenase GLUD1 E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E Glutathione peroxidase, GPX2 GPX2 E Glutathione reductase, GSR GSR E Glutathione S-transferase mu 1, GSTM1 GSTM1 E Glutathione S-transferase mu 4, GSTM4 E Glutathione S-transferase theta 1, GSTT1 GSTT1 E Glutathione S-transferase theta 2, GSTT2E Glutathione S-transferase, GSTP1 GSTP1E Glutathione S-transferase, GSTZ1 GSTZ1E Glutathione synthetase GSS E Glyceraldehyde-3-phosphate GAPDH E dehydrogenase, GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase GM2 ganglioside activator protein, GM2A GM2A E Growth arrest-specific homeobox GAX G Guanytyt cyclase E Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T <BR> <BR> Heat shock protein, HSP60 I<BR> <BR> <BR> <BR> <BR> Heat shock protein, HSP70 I Heat shock protein, HSP90I Heat shock protein, HSPA1 Heat shock protein, HSPA2I Heparin binding epidermal growth factor HBEGF G <BR> <BR> Heparin Cofactor II HCF2 I Hermansky-pudlak syndrome gene HPS T Hexokinase 1 HK1 E Hexokinase 2 HK2 E Hexosaminidase A HEXA, TSD E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N HMG-CoA lyase HMGCL E HMG-CoA reductase HMGCR E HMG-CoA synthase HMGCS2 E Holocarboxylase synthetase HLCS E <BR> <BR> HyaturonidaseT Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E Immunoglobulin E (IgE) reponsiveness gene IGER I Immunoglobulin E (IgE) serum concentration IGES I regulator gene <BR> <BR> Immunoglobulin gamma (IgG) 2 IGHG2 I Insulin INS G Insulin receptor INSR G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G 5ITGB5GIntegrinbveta Integrin beta 6 ITGB6 G Integrin, alpha M ITGAM G Inter-alpha-trypsin inhibitor, IATI E IFNA1IInterferonalpha Interferon beta IFNB I Interferon gamma I receptor1IFNGR1IInterferongamma Interferon gamma receptor 2 IFNGR2 I Interferon regulatory factor 1 IRF1 I Interferon 4IRF4Ifactor receptorIL1RIInterleukin(IL)1 alphaIL1AIInterleukin(IL)1, Interleukin (IL) 1, beta IL1B I Interleukin(IL) 10 I Interleukin (IL) 10 receptor IL10R IL11IInterleukin(IL)11 Interleukin(IL) 11 IIL11R IL12IInterleukin(IL)12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I Il13IInterleukin(IL)13 Interleukin (IL) 13 receptor IL13R I Interleukin (IL) 2 IL2 I Interleukin (IL) 2 receptor, alpha IL2RA I receptor,gammaIL2RGIInterleukin(IL)2 Interleukin (IL) 3 IL3 I Interleukin (IL) 3 receptor IL3R I Interleukin (IL) 4 IL4 I Interleukin (IL) 4 receptor IL4R I <BR> <BR> Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R I IL7IInterleukin(IL)7 Interleukin(IL) 7 receptor IL7R I Interleukin (IL) 8 IL8 I Interleukin (IL) 8 receptor IL8R I IL9IInterleukin(IL)9 Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA Eisocitratedehydrogenase Kallikrein 3 KAK3 Kininogen, High molecular weight KNG Kynureninease E Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta LTBP2 G binding protein 2 Lecithin-cholesterol acyltransferase LCAT E Leptin LEP G Leptin receptor LEPR G Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor I LIM homeobox protein 1 LHX1 G Lipoamide dehydrogenase OGDH E Lipoprotein lipase LPL I Lipoprotein receptor, Low Density LDLR T Lipoprotein, High Density HDLDT1 T Lipoprotein, Intermediate Density T Lipoprotein, Low Density 1 T Lipoprotein, Low Density 2 T Lipoprotein, Very Low Density VLDLR T Lipoxygenase E Low density lipoprotein receptor-related LRP T protein precursor Lymphoid enhancer-binding factor LEF-1 G Lysosomal acid lipase LIPA E ILysozymeLYZ MAD decapentaplegic,MADH4Gagainst Drosophila) homologue 4 Malate dehydrogenase, mitochondrial MDH2 E Malonyl CoA transferase E Mannose binding protein MBP I Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E Matrix Gla protein MGP G Matrixmetalloproteinase 1 MMP1 E Matrix metalloproteinase 10 MMP10 E Matrix metalloproteinase 11 MMP11 E Matrix metalloproteinase 12 MMP12 E Matrix metalloproteinase 13 MMP13 E Matrix metalioproteinase 14 MMP14 E Matrix metalloproteinase 15 MMP15 E Matrixmetalloproteinase 16 MMP16 E Matrix metalloproteinase 17 MMP17 E Matrix metalloproteinase 18 MMP18 E Matrix metalloproteinase 19 MMP19 E Matrix metalloproteinase 2 MMP2 E Matrixmetalloproteinase 3 MMP3, STMY1 E Matrix metalloproteinase 4 MMP4 E MatrixMMP5E5 MatrixMMP6E6 Matrix metalloproteinase 7 MMP7 E Matrix metalloproteinase 8 MMP8 E Matrix metalloproteinase 9 MMP9 E <BR> <BR> Methionine adenosyltransferase MAT1A, MAT2A E Midline 1 MID1 G Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta HADHB E subunit Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myoglobin T Myotubularin MTM1 S Na+, K+ ATPase, alpha ATP1A1 G Na+, K+ ATPase, beta 1 ATP1 B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G NADHdehydrogenase E NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 E protein 1 NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 E protein 4 NADH dehydrogenase (ubiquinone) NDUFV1 E flavoprotein 1 NADH-cytochrome b5 reductase DIA1 E <BR> <BR> NADPH-dependent cytochrome P450 POR E reductase <BR> <BR> <BR> Nebulin NEB S Nephrosis 1 NPHSI T Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neuraminidase sialidase NEU T Neuregulin HGL G Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N NeuropeptideNeuropeptideY receptor NNPY1R Neuropeptide Y receptor Y2 NPY2R N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Notch ligand-jagged 1 JAG1, AGS G <BR> <BR> Nucleoside diphosphate kinase-A NDPKA E Oncogene ELK1 ELK1 G Oncogene ELK2 ELK2 G Oncogene sis PDGFB G <BR> <BR> Ornithine delta-aminotransferase OAT E Paired box homeotic gene 6 PAX6 G Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G Patched (Drosophila) homolog, PTCH PTCH G Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome receptor 1 PXR1 T Phenylalanine hydroxylase PAH E Phenylalanine monooxygenase E Phenylethanolamine N-methyltransferase, PNMT E PNMT Phosphofructokinase, liver PFKL E Phosphofructokinase, muscle PFKM E Phosphoglucomutase E Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phosphoglycerate mutase 2 PGAM2 E PhospholipasePhospholipaseA2, group IPLA2G10 group1BPLA2G1BIPhospholipaseA2, Phospholipase A2, group 2A PLA2G2A I <BR> <BR> Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phospholipase C epsilon Pineolytic beta-receptors E Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PAI2 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G <BR> <BR> Platelet-activating factor receptor PAFR I Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channel E1 KCNE1 N <BR> <BR> Prekallikrein I Procollagen N-protease E Progesterone receptor (RU486 binding PGR G receptor) Proliferin PLF G Proopiomelanocortin POMC N Properdin P factor, complement PFC, PFD I Prosaposin PSAP N <BR> <BR> Prostacyciin synthase I<BR> <BR> <BR> <BR> Prostaglandin 15-OH dehydrogenase HGPD; PGDH I<BR> <BR> <BR> <BR> <BR> Prostaglandin D-DP receptor I Prostaglandin E1 receptorI Prostaglandin E2 receptorI Prostaglandin E3 receptorI Prostaglandin-F-FP receptor Prostaglandin F2 alpha receptorI Prostaglandin 12 receptor T Prostaglandin IP receptor I Protein C PROC I Protein C inhibitor PCI I Protein phosphatase 2, regulatory subunit A, PPP2R1 B E beta isoform <BR> <BR> <BR> Protein S PROS1 I Prothrombin precursor F2 I Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Pyruvate kinase PKLR E Quinoid dihydropteridine reductase QDPR E Renin REN E Replication factor C RFC2 E Retinoblastoma 1 RB1 G RIGUI RIGUI G Salivary amylase, AMY1 T Selectin E SELE N Selectin L SELL N Selectin P SELP N Serine hydroxymethyltransferase SHMT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1E HTR1E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage gated, type IV, SCN4A N alpha polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 6 (GAMMA-SLC6A1 T AM1NOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Somatostatin receptor, SSTR2 SSTR2 G Sphingomyelinase SMPD1 E Substance P N Succinate dehydrogenase 2 SDH2 E Succinate thiokinase E Succinyl CoA synthase E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfactant pulmonary-associated protein A1 SFTPA1 T Surfactant pulmonary-associated protein A2 SFTPA2 T Surfactant pulmonary-associated protein B SFTPB T Surfactant pulmonary-associated protein C SFTPC T Surfactant pulmonary-associated protein D SFTPD T Surfeit 1 SURF1 G Survival of motor neuron 1, telomeric SMN1 T <BR> <BR> Talin TLN G T-BOX 2 TBX2 G T-BOX 3 TBX3 G TEK, tyrosine kinase, endothelial TEK E Telomerase protein component E Thiolase, perioxisomal E Thrombin receptor F2R <BR> <BR> Thrombomodulin THBD Thrombopoietin THPO G <BR> <BR> Thrombospondin THBS1 G Thromboxane A synthase 1 TBXAS1 Thromboxane A2 TXA2 Thromboxane A2 receptor TBXA2R <BR> <BR> Thyroglobulin TG G Thyroid hormone receptor, alpha THRA G Thyroid hormone receptor, beta THRB G Thyroid peroxidase TPO G Thyroid receptor auxiliary protein TRAP G Thyroid-stimulating hormone receptor TSHR G Thyroid-stimulating hormone, alpha TSHA G Thyroid-stimulating hormone, beta TSHB G Thyrotropin releasing hormone receptor TRHR G Topoisomerase I E <BR> <BR> Transacylase E Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G <BR> <BR> Transketolase TKT E<BR> <BR> <BR> <BR> <BR> <BR> Transketolase-like 1 TKTL1 E Triosephosphate isomerase TP11 E Trypsin inhibitor E Uncoupling protein 1 T Uroporphyrinogen III synthase UROS E Vasoactive intestinal polypeptide receptor VIPR N Vasoinhibitory peptide G Vitronectin receptor, alpha VNRA T Von Hippel-Lindau gene VHL G Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Xanthine dehydrogenase XDH E In a eleventh aspect.

INJURY, INFLAMMATION, IMMUNITY AND INFECTION PATENT APPLICATION The present invention relates to a method of assessing the risk of developing the clinical or social consequences of injury, inflammation, immunity and/or repair and indicating appropriate therapeutic interventions.

Infection and injury are the commonest causes of death in humans under the age of fifty. In a simplistic way both injury and infection can be regarded as events which compromise and destroy the integrity and functionality of tissues, thus leading to debilitating physical states. The human body has evolved a series of physiological responses in order to contain and repair the consequences of injury and infection.

These responses are described in the concepts of inflammation, immunity and repair.

Humans are continually exposed to pathogens every minute of the day in the external environment, yet considering the degree of exposure clinical infections are uncommon and death from infection is a relatively rare event. Whilst there is an increasing body of knowledge concerning the genomic structure and physiology of pathogens there is still substantial ignorance concerning the pathophysiology and variability in the individual response to potential pathogens and infection (Weatherall, Leadingham and Warrell et al 1996).

The skin, mucosa and epithelia (e. g. of the gut or urinary tract) provide important physical and biochemical barriers to potential pathogens. Secretion of bactericidal substances (e. g.-lysozyme) increase the value of the barrier. As a result damage or injury to the skin surface or to the epithelia lining the gut wall or nasal passages can lead to increased susceptibility to infection.

Association, adhesion and invasion are the key features which characterise the ability of infectious agents to interact with body tissues.

Association-describes the interaction of pathogens with pproteins of the cellular surface or cellular matrix (e. g. CD4 receptor, fibronectin, laminin, collagen).

Adhesion-describes the process whereby pathogen ligands bind to cell surface receptors (usually a glycoprotein or glycolipid e. g. C3 receptor).

Invasion-describes the process (similar to phagocytosis for bacteria) wherby a pathogen is able to crosss the cellular wall and invade the cytoplasm or sub-cellular compartments or nucleus of a cell and disrupt cellular function.

Many pathogens such as bacteria produce toxins which have a deleterious effect on cellular functioning. Such toxins can be categorised as either endotoxins (e. g. lipid A of Gram-negative bacteria) which are released when the cellular structure of the micro-organism is disrupted or exotoxins which are proteinaceous toxins secreted by the pathogen (such as the Shiga toxin of S. dysenteriae).

Toxins damage host tissues in a variety of ways, such as the overproduction of inflammatory cytokines (IL-1 and 6 and tumour necrosis factor a by lipid A) or the ADP-ribosylation of G-proteins causing severe dysfunction of membrane enzymes such as adenylate cyclase (by cholera toxin and pertussis toxin).

The destruction of body tissues by injury, pathogens or the release of toxins can lead to a series of physiological changes including, fever, increased basal metabolic rate, increased cardiac output, and changes in plasma proteins. Together these changes have been termed the acute phase reaction and the orchestration of this reaction is achieved by cytokine release from cells of the macrophage/monocyte lineage.

Although the symptoms of the acute phase response are unpleasant for the patient there is evidence that they can have a beneficial effect (e. g. the pronounced effect of fever on neurosyphilitic infections, inhibition of bacterial growth by acute phase proteins). However, it is also well documented that an extended acute phase reaction can evolve into a syndrome of septic shock in which excess production of tumour necrosis factor a induces detrimental phenomena such as vascular damage resulting in a fatal clinical condition.

Following the generalised physiological response to pathogens specific cell are recruited to the site of the infection or injury. Polymorphic neutrophil leucocytes are generally the first to be involved in attempts to neutralise pathogens. The are attracted to the relevant sites by chemotactic factors on the pathogens or by complement activation following antibody labelling. Pathogens thus identified are then destroyed by phagocytosis The complement pathway is a central feature of the protective immune response. The pathway is a complex cascade of proteins which serve to attract white cells to the site of infection and pathogen, facilitate the process of phagocytosis and have a direct effect on pathogens by disrupting their cell walls. The pathway is activated by the presence of immune complexes ('classical'complement pathway), by the presence of microbial products ('alternative'complement pathway) or as a consequence of the digestion of complement component by bacterial proteases. People with deficiencies in proteins which make up the complement cascade are known to have an increased vulnerability to infection.

Specific defences against particular pathogens are the result of the generation of specific antibodies by B and T lymphocytes due to priming by a previous infection or vaccination or to the de-novo recognition of pathogen molecules.

Immune system mediated destruction of pathogens is the result of the synergistic action between antibodies and polymorphic neutrophil leukocytes. Destruction of pathogens sheltering within host cells is mediated by sensitised T lymphocytes engaging in direct cytolytic action. Direct contact between effector and target cell is required and the cells must share the same class I histocompatability antigens.

Sensitised lymphocytes can also modulate macrophage activity by secreting lymphokines.

The critical role of the immune system in protecting the integrity of the person from infection has been amply demonstrated by examination of the dire consequences which occur when immune function is compromised (e. g. as occurs in acquired immune deficiency syndrome-AIDS). However, the price of efficient immune protection and eradication of pathogens is a degree of destruction of the host tissue.

The destructive side effects of immune system activity can be categorised thus: Immediate hypersensitivity reactions Release of histamine and other vasoactive amines from basophils and mast cells that have been sensitised by IgE antibody. Physiological reactions to histamine release can include allergies, rashes, asthma and peripheral circulatory collapse and death.

Antibody-mediated tissue damage Sensitisation of host cells by pathogens may render such cells vulnerable to attack by the immune system such a mechanisms is thought to be involved in auto-immune diseases such as myasthenia gravis, diabetes, some haemolytic anaemias and psoriasis.

Immune complex mediated tissue damage Tissue destruction following deposition of immune-complex is a common pathological feature of infection. Immune complexes formed in the circulation can accumulate in organs such as the kidnes, skin, synovium or liver. Localised acute phase responses are triggered and this can lead to tissue damage. Common clinical manifestations of such immune-complex damage are acute glomerulonephritis, chronic glomerulonephritis, arthritis and rashes.

Delayed hypersensitivity reactions The sensitisation of cells persists and so the potential for immune-related damage continues. Thiscan be particularly marked when patients recover their ability to mount an immune response following a period of decline.

REPAIR FOLLOWING INJURY, INFLAMMATION, INFECTION AND IMMUNE RESPONSE.

Following the elimination of pathogen and immune response-related damage the reparative mechanisms of the body will seek to ameliorate the consequences of tissue loss. The level of inflammation and immune-related activity will be reduced, allowing for the resumption of normal cellular processes and the switching to repair or regenerative modes of activity. Cellular debris will be cleared away and a number of repair mechanisms induced to restore or regain functionality. In many cases this will occur due to the natural rate of cellular re-generation in tissues such as the liver. In other organs where the potential for regeneration is much reduced (e. g. the brain and spinal cord) specific processes such as neurite extension and re-myelination must be initiated by appropriate cells such as glia and controlled by the localised release of appropriate growth factors.

The physiology and control of the body's response to infection and injury is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, have an impact on the functioning and success of the patients attempts to minimise cellular damage and restore function. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from infection and injury including age, sex, nutritional status, pre-existing disease or injury and drug treatments. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to injury and infection and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of injury and infection.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION <BR> <BR> <BR> <BR> <BR> <BR> <BR> IMMUNITY GENE LIST-HUGO gene Protein symbol function 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) Acetylcholinesterase ACHE E Acidic amino acid transporter T Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Actin, beta ACTB S Actin, gamma 2 ACTG2 S ADAM (A disintegrin and metalloproteinase) 1 ADAM1 E ADAM (A disintegrin and metalloproteinase) 10 ADAM10 E ADAM (A disintegrin and metalloproteinase) 11 ADAM11 E ADAM (A disintegrin and metalloproteinase) 12 ADAM12 E ADAM (A disintegrin and metalloproteinase) 13 ADAM13 E ADAM (A disintegrin and metalloproteinase) 14 ADAM14 E ADAM (A disintegrin and metalloproteinase) 15 ADAM15 E ADAM (A disintegrin and metalloproteinase) 16 ADAM16 E ADAM (A disintegrin and metalloproteinase) 17 ADAM17 E ADAM (A disintegrin and metalloproteinase) 18 ADAM18 E ADAM (A disintegrin and metalloproteinase) 19 ADAM19 E ADAM (A disintegrin and metailoproteinase) 2 ADAM2 E ADAM (A disintegrin and metalloproteinase) ADAM3A E 3A ADAM (A disintegrin and metalloproteinase) ADAM3B E 3B ADAM (A disintegrin and metalloproteinase) 4 ADAM4 E ADAM (A disintegrin and metalloproteinase) 5 ADAM5 E ADAM (A disintegrin and metalloproteinase) 6 ADAM6 E ADAM (A disintegrin and metalloproteinase) 7 ADAM7 E ADAM (A disintegrin and metalloproteinase) 8 ADAM8 E ADAM (A disintegrin and metalloproteinase) 9 ADAM9 E Adducin, aipha ADD1 S Adducin, beta ADD2 S Adenosine deaminase ADA E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyctase 9-ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Albumin, ALB ALB T Aldosterone receptor MLR G Alpha 1 acid glycoprotein AAG; AGP T <BR> <BR> Alpha 2 macroglobulin A2M I alpha1-antitrypsin Pl E <BR> <BR> alpha2-antiplasmin PLI E Alpha-fetoprotein AFP G alpha-glucosidase, neutral AB GANAB E alpha-glucosidase, neutral C GANC E Aminopeptidase P XPNPEP2 E Amylo-1,6-glucosidase AGL E Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Androgen binding protein ABP T Androgen receptor AR G Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2AGTR2T <BR> <BR> AngiotensinogenAGTE Annexin 1ANX1) Antidiuretic hormone receptorADHRT Anti-Mullerian hormone AMH G Antithrombin III AT3 E Apaf-1S Apolipoprotein E APOE T Apoptosis antigen 1 APT1 Apoptosis antigen ligand 1 APT1LG1 Apoptosis-inducing factor AIF Arginosuccinate EASL Aryl hydrocarbon receptor AHR T Asparagine synthetase AS E Aspartylglucosaminidase AGA E Ataxia telangiectasia complementation group D ATD, ATDC G Ataxia telangiectasia gene, AT ATM G ATP-binding cassette transporter 7ABC7 Attractin I Autoimmune regulator, AIRE AIRE I <BR> <BR> B-cell CLL/lymphoma 1 BCL1 I<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 10-BCL10 I B-cell CLL/lymphoma 3 BCL3 I <BR> <BR> B-cell CLL/lymphoma 4 BCL4 I B-cell CLL/lymphoma 5IBCL <BR> <BR> B-cell CLL/lymphoma 6 BCL6 I<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 7 BCL7 I<BR> <BR> <BR> <BR> <BR> B-cell CLL/lymphoma 8 BCL8 I B-cell CLL/lymphoma 9 BCL9 I BCL2-associated X protein BAX G BCL2-related protein A1BCL2A1 G Beckwith-Wiedemann region 1A BWR1A G beta 2 microglobulin B2M I Bleomycin hydrolase BLMH E Bloom syndrome protein BLM G Bradykinin receptor B1 I Bradykinin receptor B2 I Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor BRCA1-associated RING domain gene 1 BARD1 G Breakpoint cluster region BCR G Breast cancer 1 BRCA1 G Breast cancer 2 BRCA2 G Breast cancer, ductal, 1 BRCD1 G Breast cancer, ductal, 2 BRCD2 G Butyrylcholinesterase BCHE E C3 convertase E Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G <BR> <BR> CalcineurinA1 CALNA1<BR> <BR> <BR> <BR> Calcineurin A2 CALNA2 I Calcineurin A3 CALNA3 I Calcineurin B I Calcitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1 A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Calretinin CALB2 N Canalicular multispecific organic anion CMOAT T transporter Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E alphaCA1ECarbonicanhydrase, Carbonic anhydrase, beta CA2 E CES1ECarboxylesterase1 Cardiac-specific homeobox, CSX CSX G Cartilage-hair hypoplasia gene CHH N CASP1GCaspase1 ICatalaseCAT Cathepsin G CTSG E ICD1CD1 ICD10CD10 ICD100CD100 <BR> <BR> <BR> CD101 CD101<BR> <BR> <BR> <BR> <BR> <BR> CD103 CD103 ICD106CD106 <BR> <BR> <BR> CD107 CD107<BR> <BR> <BR> <BR> <BR> <BR> CD108 CD108<BR> <BR> <BR> <BR> <BR> <BR> CD109 CD109 ICD110CD110 <BR> <BR> <BR> CD111 CD111 ICD112CD112 ICD113CD113 <BR> <BR> <BR> CD114 CD114 ICD115CD115 <BR> <BR> <BR> CD116'CD116 ICD117CD117 ICD118CD118 ICD119CD119 CD12 CD12 I CD120 CD120 I CD121 CD121 I CD122 CD122 I CD123 CD123 I CD124 CD124 I CD125 CD125 I CD126 CD126 I CD127 CD127 I CD128 CD128 I CD129 CD129 I ICD13CD13 CD130 CD130 I ICD131CD131 CD132 CD132 I ICD133CD133 ICD134CD134 ICD135CD135 ICD136CD136 ICD137CD137 ICD138CD138 ICD139CD139 ICD14CD14 ICD140CD140 ICD141CD141 ICD142CD142 ICD143CD143 ICD144CD144 ICD145CD145 ICD147CD147 ICD148CD148 ICD149CD149 ICD15CD15 ICD150CD150 ICD151CD151 ICD152CD152 ICD153CD153 ICD154CD154 ICD155CD155 ICD156CD156 ICD157CD157 ICD158CD158 ICD159CD159 ICD160CD160 ICD161CD161 ICD162CD162 ICD163CD163 ICD164CD164 ICD165CD165 ICD166CD166 ICD17CD17 ICD19CD19 ICD2CD2 ICD20CD20 ICD22CD22 ICD23CD23 ICD24CD24 ICD25CD25 ICD26CD26 ICD27CD27 ICD28CD28 ICD3CD3 ICD30CD30 ICD31CD31 ICD33CD33 ICD34CD34 ICD36CD36 <BR> CD37 I CD38 I CD39 I CD4 CD4 I CD40 I CD41 I ICD42CD42 CD43 I CD44 I CD45 I CD46 I CD47 CD47 I CD48 I ICD5CD5 CD50 CD50 I ICD52CD52 ICD53CD53 ICD55CD55 CD57 CD57 I ICD58CD58 CD59 CD59 I ICD6CD6 CD60 CD60 I CD63 I ICD65CD65 ICD66CD66 ICD67CD67 ICD68CD68 ICD69CD69 ICD7CD7 CD70 CD70 I ICD71CD71 CD72 I ICD73CD73 ICD74CD74 ICD75CD75 ICD76CD76 ICD77CD77 CD78 I CD79 CD79 I CD8 CD8 I CD80 CD80 I CD81 CD81 I CD82 CD82 I ICD83CD83 CD84 CD84 I CD85 CD85 I CD86 CD86 I CD88 CD88<BR> <BR> <BR> <BR> <BR> CD89 CD89 ICD9CD9 ICD90CD90 <BR> <BR> CD91 CD91 ICD92CD92 <BR> <BR> CD93 CD93<BR> <BR> <BR> <BR> CD94 CD94 ICD96CD96 ICD97CD97 <BR> <BR> CD98 CD98 ICD99CD99 Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-endothelial, LECAM1 G LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G Chediak-Higashi syndrome 1 gene CHS1 T Chemokine IMCAF Chemokine receptor CCR2 CCR2 Chemokine receptor CCR3 CCR3 I Chemokine receptor ICCR5 Chemokine receptor CXCR1 CXCR1 I Chemokine receptor CXCR2 CXCR2 I Chemokine receptor CXCR4 CXCR4 Cholesterylester hydrolase ! ase Chondritin Sulphate A-placental receptorI Chromogranin A CHGA G Chymase CHY1 Clathrin T CoA transferase E Collagen I alpha 1 COL1A1 S Collagen I alpha 2 COL1A2 S Collagen 1COL2A1Salpha Collage III alpha 1 COL3A1 S Collage IV alpha 1 COL4A1 S Collagen 2COL4A2Salpha Collagen 3COL4A3Salpha <BR> <BR> Collagen IV alpha 4 COL4A4 S alpha5COL4A5SCollagenIV Collagen IV COL4A6S6 alpha2COL9A2,EDM2SCollagenIX alpha3COL9A3SCollagenIX Collagen receptor COLR S Collagen V alpha 1 COL5A1 S Collage V alpha 2 COL5A2 S Collagen Vl alpha 1 COL6A1 S Collage VI alpha 2 COL6A2 S Collage VI alpha 3 COL6A3 S Collagen Vil alpha 1 COL7A1 S alpha1COL10A1SCollagenX Collagen X alpha 1 COL11A1 S Collage XI alpha 2 COL11A2 S Collage XVII alpha 1 COL17A1 S Collagenic-like tail subunit of asymmetric COLQ E acetylcholinesterase Colony-stimulating factor 1 CSF1 G Colony-stimulating factor 1 receptor CSF1 R G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Colony-stimulating factor 2 beta receptor CSF2RB G Colony-stimulating factor 3 CSF3 G 3receptorCSF3RGColonyl-stimulatingfactor C1inhibitorC1NHIComplementcomponent Complement component C1 qa C1 QA I Complement component IC1QB Complement component C1qg C1QG I Complement component C1 r C1 R I Complement component C1s C1S Complement component C2-C2 I Complement component C3 C3 I Complement component C4A C4A I Complement component C4B C4B I Complement component C5 C5 I Complement component C6 C6 I Complement component C7 C7 I Complement component C8 C8B I Complement component C9C9 <BR> <BR> Complement component receptor 1 CR1 I Complement component receptor 2 CR2 I Complement component receptor 3 CR3 I Contactin CNTN 1 G alpha1CBFA1GCore-bindingfactor, Core-binding factor, alpha 2 CBFA2 G Core-binding factor, beta CBFB G Cortico-steroid binding protein T Corticosteroid nuclear I Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T <BR> <BR> Cortiso!receptort C-reactive protein CRP I c-src tyrosine kinase CSK G Cyclic AMP response element binding protein CREB G Cyclic AMP-dependent protein kinasePKAE Cyclic nucleotide phosphodiesterase 1 B PDE1 B E Cyclic nudeotidephosphodiesterase1B1PDE1B1E Cyclic nucleotide phosphodiesterase 2A3PDE2A3E Cyclic nucleotide phosphodiesterase 3APDE3AE Cyclic nucleotide phosphodiesterase3BPDE3BE Cyclic nucleotide phosphodiesterase 4A PDE4A E <BR> <BR> Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclin D CCND1 G 1CDK1GCyclin-dependentkinase Cyclin-dependent kinase GCDK10 <BR> <BR> Cyclin-dependent kinase 2 CDK2 G Cyclin-dependent kinase 3 CDK3 G Cyclin-dependent kinase 4 CDK4 G <BR> <BR> Cyclin-dependent kinase 5 CDK5 G Cyclin-dependent kinase 6 CDK6 G <BR> <BR> Cyclin-dependent kinase 7 CDK7 G Cyclin-dependent kinase 8 CDK8 G Cyclin-dependent kinase GCDK9 Cyclin-dependent kinase inhibitor 1A (P21, CDKN1A G CIP1) Cyclin-dependent kinase inhibitor 1B (P27, CDKN1B G KIP1) Cyclin-dependent kinase inhibitor 1C (P57, CDKN1C G KIP2) Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G Cyclin-dependent kinase inhibitor 3 CDKN3 G Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E <BR> <BR> Cydophiiin)<BR> <BR> <BR> <BR> CYP11A1 CYP11A1 E ECYP11B1CYP11B1 <BR> <BR> CYP11 B2 CYP11 B2 E<BR> <BR> <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> CYP19 CYP19 E<BR> <BR> <BR> <BR> <BR> CYP1A1 CYP1A1 E<BR> <BR> <BR> <BR> CYP1A2 CYP1A2 E<BR> <BR> <BR> <BR> <BR> CYP1 B1 CYP1 B1 E CYP21 CYP21 E CYP24CYP24 CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E<BR> <BR> <BR> <BR> <BR> CYP2A3CYP2A3E<BR> <BR> <BR> <BR> CYP2A6V2CYP2A6V2E<BR> <BR> <BR> <BR> <BR> CYP2A7CYP2A7E<BR> <BR> <BR> <BR> CYP2B6CYP2B6E<BR> <BR> <BR> <BR> <BR> CYP2C18CYP2C18E<BR> <BR> <BR> <BR> CYP2C19CYP2C19E<BR> <BR> <BR> <BR> <BR> CYP2C8CYP2C8E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1I binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 Defender against cell death 1 DAD1 G Deleted in colorectal carcinoma DCC G Deoxycorticosterone (DOC) receptor E Deoxycytidine kinase DCK E <BR> <BR> Dihydrolipoyl dehydrogenase 2 PDHA E Dihydrolipoyl transacetylase PDHA E Dopamine receptors D1DRD1N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Duffy blood group FY T Dynamin DNM1 G EB1 G Elastase 1 ELAS1 E Elastase 2 ELAS2 E SEndoglinENG Endo-P-D-glucuronidase I Enolase EN01 E Erythroid kruppel-like factor EKLF G <BR> <BR> Erythropoietin EPO I Erythropoietin receptor EPOR I Estrogen receptor ESR G EWS RNA-binding protein EWSR1 G Factor 1 (No. one) F1 I FactorFactorB, properdin I Factor D I Factor H HF1 I Factor I (letter 1) IF I Factor III F3 I Factor IX F9 I Factor V F5 I Factor IF7 Factor IF8 Factor IF10 Factor XI Fll I Factor IF12 <BR> <BR> <BR> Factor XIII A & B F13A & F13B I Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fc fragment of IgG, low affinity! a, receptor for FCGR2A G (CD32) Fc receptor I Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen SFGG Fibronectin precursor FN1 G Follicle stimulating hormone receptor FSHR, ODG1 G Follicie stimulating hormone, FSH FSHB G Follicular lymphoma variant translocation 1 FVT1 I Forkhead rhabdomyosarcoma gene FKHR G Forkhead transcription factor 7 FKHL7 G Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1, 3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G Glial-cell derived neurotrophic factor (GDNF) N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glucosaminyl (N-acetyl) transferase 2, I-GCNT2 E branching enzyme Glutamate receptor1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutamine synthase E Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E Glutathione peroxidase, GPX2 GPX2 E Glutathione S-transferase mu 1, GSTM1 GSTM1 E Glutathione S-transferase mu 4, GSTM4 E Glutathione S-transferase, GSTZ1 GSTZ1 E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycophorin A GYPA S Glycophorin B GYPB S Glycophorin C GYPC S Glycosyltransferases, ABO blood group ABO E Glypican 3 GPC3, SDYS G Gonadotropin releasing hormone receptor GNRHR G Growth-regulated protein precursor, GRO GRO I Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNAI1 Guanine nucleotide-binding protein, alpha GNAI2 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, q GNAQ N polypeptide H(+), K(+)- NATP4B Haemoblobin alpha THBA1 Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T <BR> <BR> Haptoglobin, alpha 1 HPA1 Haptoglobin, alpha 2 HPA2 <BR> <BR> Haptoglobin, beta HPB Hemochromatosis HFE T Heparin binding epidermal growth factor HBEGF G IIHCF2IHeparinCofactor Hepatitis B virus integration site 1 HVBS1 Hepatitis B virus integration site 2 HVBS6 High mobility group protein C HMGIC G High mobility group protein Y HMGIY G Histamine receptors, N Histamine receptors, H2 N Histamine receptors, H3 N Histatin 1 Histatin 2 Histatin IHTN3 HLA-B associated transcript 1 BAT1 I Holocarboxylase synthetase HLCS E Homeobox 11 HOX11 G Homeobox HB24 HLX1 G IC7 A and B I Ikaros gene IKAROS G <BR> <BR> Immunoglobulin alpha (IgA) IGHA I Immunoglobulin delta (IgD) IGHD I Immunoglobulin E (IgE) reponsiveness gene IGER I Immunoblobulin E (IgE) serum concentration IGES I regulatorgene <BR> <BR> Immunoglobulin epsilon (IgE) IGHE I Immunoglobulin gamma (IgG) 2 IGHG2 I Immunoglobulin heavy mu chain IGHM I Immunoglobulin J polypeptide IGJ I Immunoglobulin kappa constant region IGKC I Immunoglobulin kappa variable region IGKV I Insulin-like growth factor 1 IGF1 G Insulin-likegrowthfactor1 receptor IGF1R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G 1ITGB1GIntergrinbeta Integrin beta 2 ITGB2 G tntegrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G 5ITGB5GIntegrinbeta Integrin beta 6 ITGB6 G Integrin beta 7 ITGB7 G 1ITGA1GIntegrin,alpha Integrin, alpha 2 ITGA2 G Integrin, alpha 4 ITGA4 G Integrin, alpha 5 ITGA5 G Integrin, alpha 6 ITGA6 G MITGAMGIntegrin,alpha molecule1ICAM1IIntercellularadhesion Intercellular adhesion molecule 2 ICAM2 I Intercellular adhesion molecule 3 ICAM3 I Interferon alpha (IFNA1 I Interferon beta IFNB I Interferon gamma IFNG I Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I Interferon regulatory factor 1 IRF1 I InterferonInterferonregulatory factor IIRF4 Interleukin (IL) 1 receptor IL1 R I Interleukin (IL) 1, alpha IL1A I betaIL1BIInterleukin(IL)1, Interleukin(IL) 10 I Interleukin (IL) 10 receptor IL10R I Interleukin(IL) 11 I Interleukin(IL) 11 IIL11R <BR> <BR> Interleukin (IL) 12 IL12 I Interleukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 Interleukin (IL) 13 receptor IL13R I IL2IInterleukin(IL)2 Interleukin (IL) 2 receptor, alpha IL2RA I Interleukin (IL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 Interleukin (IL) 3 receptor IL3R I IL4IInterleukin(IL)4 Interieukin (IL) 4 receptor IL4R I Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R I IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R I IL7IInterleukin(IL)7 Interleukin (IL) 7 receptor IL7R I Interleukin (lL) 8 IL8 receptorIL8RIInterleukin(IL)8 IL9IInterleukin(IL)9 Interieukin (IL) 9 receptor IL9R Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RAI Janus kinase 1 JAK1 G Janus kinase 2 JAK2 G Janus kinase 3 JAK3 G <BR> <BR> <BR> Kallikrein 3 KAK3 I Kell blood group precursor XK, KEL T Kininogen, High molecular weight KNG I Kynureninease E Lactotransferrin LTF T Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta binding LTBP2 G protein 2 Lectin, mannose-binding ILMAN1 Lectin, mannose-binding IMBL2 Leptin LEP G Leptin receptor LEPR G Leukaemia inhibitory factor LIF G Leukaemia inhibitory factor receptor LIFR G Leukin I <BR> <BR> <BR> Leukocyte-specific transcript 1 LST-1 I Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor I LIM homeobox protein 1 LHX1 G LIM homeobox protein 2 LHX2 G LIM homeobox protein 3 LHX3 G LIM homeobox protein 4 LHX4 G LIM-domain only protein 1 LM01 G protein2LMO2GLIM-domainonly protein3LMO3GLIM-domainonly protein4LMO4GLIM-domainonly (LINK-I)ILIM-KinaseI Lipocortin 1 ANX4 I Lipoprotein-associated coagulation factor LACI I <BR> <BR> Lipoxygenase 12 (platelets) LOG12 I Lipoxygenase 5 (leukocytes) I Lymphoblastic leukemia derived sequence 1 LYL1 I Lymphocyte-specific protein tyrosine kinase LCK I Lymphoid enhancer-binding factor LEF-1 G <BR> <BR> tymphotoxin Lysozyme LYZ I <BR> <BR> Macrophage activating factor MAF I Macrophage inflammatory protein-1 MIP1 I <BR> <BR> Macrophage inflammatory protein-1 receptor I Macrophage inflammatory protein-2 MIP2 <BR> <BR> Macrophage inflammatory protein-2 receptor I MAD (mothers against decapentaplegic, MADH3 G Drosophila) homologue 3 MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 <BR> <BR> Malignant proliferation, eosinophil gene MPE I<BR> <BR> <BR> <BR> Mannose binding protein MBP I Mannosidase, alpha B lysosomal MANB E Marenostrin MEFV T Matrix metalloproteinase 1 MMP1 E Matrix metalloproteinase 10 MMP10 E Matrix metalloproteinase 11 MMP11 E Matrix metalloproteinase 12 MMP12 E Matrix metalloproteinase 13 MMP13 E Matrix metalloproteinase 14 MMP14 E Matrix metalloproteinase 15 MMP15 E Matrix metalloproteinase 16 MMP16 E Matrix metalloproteinase 17'MMP17 E Matrix metalloproteinase 18 MMP18 E Matrix metalloproteinase 19 MMP19 E Matrix metalloproteinase 2 MMP2 E Matrix metalloproteinase 3 MMP3, STMY1 E Matrix metalloproteinase 4 MMP4 E Matrix MMP5E5 Matrix metalloproteinase 6 MMP6 E Matrix metalloproteinase 7 MMP7 E Matrix metalloproteinase 8 MMP8 E Matrix metalloproteinase 9 MMP9 E MHC Class I: A MHC Class I: B MHC Class I: C <BR> <BR> <BR> MHC Class I: LMP-2, LMP-7 ( MHC Class I: Tap1 ABCR, TAP1 I MHC Class II: DP HLA-DPB1 I <BR> <BR> <BR> MHC Class If: DQ I MHC Class II: DRI MHC Class If: Tap2 TAP2, PSF2I MHC Class AMHC2TAIgroup MHC Class lI: Complementation group B rfxankI MHC Class lI: Complementation group C RFX5 MHC Class II:Complementation group D RFXAP I Monocyte chemoattractantprotein 1 MCP1 Mucin 18 MUC18 T Mutated in colorectal cancers, MCC MCC G MutL homolog 1 MLH1 G MutS homolog 2 MSH2 G MutS homolog 3 MSH3 G Myeloid leukemia factor-1 MLF1 I <BR> <BR> Myeloperoxidase MPO I<BR> <BR> <BR> <BR> <BR> MyogtobinT Myosin 5A MY05A S N-acyt hydrolase NADPH oxidase I NADPH-dependent cytochrome P450 POR E reductase Natural resistance-associated macrophage NRAMP1 I protein 1 <BR> <BR> NB6 Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neurokinin A NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1'NPY1 RN Neuropeptide Y receptor Y2 NPY2R N Neutral endopeptidase E Neutrophil cystolic factor 1 NCF1 I Neutrophil cystolic factor 2 NCF2 I Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Norrie disease protein NDP G Notch 3 NOTCH3 G Notch ligand-jagged 1 JAG1, AGS G Nuclear factor I-kappa-B-like gene IKBL I Nuctear factor kappa beta NFKB I Nuclear factor of activated T cells (NFAT) NFATC G complex, cytosolic Nuclear factor of activated T cells (NFAT) NFATP G complex, preexisting component Nucleoside diphosphate kinase-A NDPKA E Oncogene bcl2 G Oncogene ELK1 ELK1 G Oncogene ELK2 ELK2 G Oncogene ERG (early reponse gene) G Oncogene GGLI Oncogene GL12 GL12 G OncogeneGLI3 GLI3 G Oncogene spi 1 G Oncogene TEL ETV6 G Oncostatin GOSM Oncostatin M receptor OSMR G Ornithine de)ta-aminotransferaseOATE Osteonectin ON G Osteopontin OPN G Paired box homeotic gene 3 PAX3 G Paired box homeotic gene 7 PAX7 G Patched (Drosophila) homolog, PTCH PTCH G Peanut-like IPNUTL1 Phagocytin I Phenylethanolamine N-methyltransferase, PNMT E PNMT Phosphatidylinositol glycan, class A PIGA G (paroxysmal nocturnal hemoglobinuria) Phospholipase A2, group 10 PLA2G 10 Phospholipase A2, group 1B PLA2G1B Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6-PLA2G6 I Phospholipase C alpha I Phospholipase C beta I Phospholipase C delta PLCD1 I Phospholipase C epsilon I Phospholipase C gamma PLCG1 I Phosphomannomutase-2 PMM2 T Plakophllin TPKP1 Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2 PAI2 E Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E <BR> <BR> Piate!etg!ycoprotein1b,a!phaGP1BA Platelet glycoprotein 1 b, beta GP1BB I Platelet glycoprotein 1 b, gamma GP1 BG I <BR> <BR> Platelet glycoprotein IX GP9 I<BR> <BR> <BR> <BR> Platelet glycoprotein V GP5 I acetylhydrolase1BFAFAH1B1orLIS1IPlatelet-activatingfactor Platelet-activating factor acetylhydrolase 2 PAFAH2 I Platelet-activating factor receptor PAFR I Poliovirus receptor PVR, PVS I Potassium channel, calcium-activated, KCNN4 N Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J 11 KCNJ 11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N <BR> <BR> Prekallikrein I Preproenkephalin PENK N Procollagen N-protease E Promyelocytic leukemia gene PML G Proopiomelanocortin POMC N Properdin P factor, complement PFC, PFD I Prostacyclin synthase I Prostaglandin (PG) D synthase, hematopoietic PGDS E Prostaglandin 15-OH dehydrogenase HGPD; PGDH I <BR> <BR> Prostaglandin D-DP receptor I<BR> <BR> <BR> <BR> <BR> Prostaglandin E1 receptor I<BR> <BR> <BR> <BR> Prostaglandin E2 receptor 1<BR> <BR> <BR> <BR> <BR> Prostaglandin E3 receptor I Prostaglandin F-FP receptor I Prostaglandin 12 receptor T Prostaglandin IP receptor I Prostaglandin isomerase G Prostaglandin-endoperoxidase synthase 2-PTGS2 G Protease inhibitor 1 T Protein C PROC I Protein C inhibitor PCI I Protein kinase A E Protein kinase C, alpha PRKCA E Protein kinase C, gamma PRKCG E Protein kinase DNA-activated PRKDC E Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1 R3 E subunit 3 Protein phosphatase 2, regulatory subunit A, PPP2R1 B E beta isoform Protein S PROS1 I Protein tyrosine phosphatase, non-receptor PTPN12 G type 12 <BR> <BR> Proteinase 3 ! Prothrombin precursor F2 I Purine nucleoside phosphorylase NP E Pyruvate decarboxylase PDHA E Retinoblastoma 1 RB1 G Retinol binding protein 4 RBP4 T Rhesus blood group, CcEe antigens RHCE T Rhesus blood group, D antigen RHD T Rhesus blood group-associated glycoprotein RHAG T Ribosomal protein S19 RPS19 E RIGUI RIGUI G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N SAP (SLAM-associated protein) SH2D1A I Selectin E SELE N Selectin L SELL N Selectin P SELP N Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Severe combined immunodeficiency, type A SCIDA I (Athabascan) Signal transducer and activator of transcription STAT1 G 1 Signal transducer and activator of transcription STAT2 G 2 Signal transducer and activator of transcription STAT3 G 3 Signal transducer and activator of transcription STAT4 G 4 Signal transducer and activator of transcription STAT5 G 5 Signaling lymphocyte activation molecule SLAM I Sine oculis homeobox, drosophila, homolog 1 SIX1 G Sine oculis homeobox, drosophila, homolog 2 SIX2 G Sjoegren (Sjogren) syndrome antigen A1 SSA1 I Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCH1B N polypeptide Solute carrier family 19 (folate transporter), SLC19A1 T member 1 Solute carrier family 20, member 1 SLC20A1 T Solute carrier family 20, member 2 SLC20A2 T Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T TSorcinSRI Sperm protamine P1 PRM1 G Sperm protamine P2 PRM2 G Stem cell factor SCF G Stromal derived factor 1 SDF1 G Succinate dehydrogenase 1 SDH1 E Succinate thiokinase E Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E SYK-related tyrosine kinase SRK I Talin TLN G Talin, TLN S T-cell acute lymphocytic leukemia 1 TAL1 I T-cell acute lymphocytic leukemia 2 TAL2 I T-cell receptor, alpha TCRA I T-cell receptor, delta TCRD I Tenascin (cytotactin) S Tenascin XA TNXA S Terminal deoxynucleotidyltransferase TDT I Terminal deoxynucleotidyltransferase, TDT E Thrombin receptor F2R I Thrombopoietin THPO G Thrombospondin THBS1 G Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 I <BR> <BR> <BR> Thromboxane A2 receptor TBXA2R I Thy-1 T-cell antigen THY1 I Thymic humoral factor Thymopoietin TMPO G Thymosin) TIE receptor tyrosine kinase TIE-1 G Tip-associated protein TAP I Toll-like receptor 4 TLR4 Topoisomerase E Topoisomerase E Transcobalamin 2, TCN2 TCN2T Transcription factor 3 TCF3 G Transcription factor binding to IGHM enhancer TFE3 G 3 Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, alpha TGFA G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor2 TGFBR2 G Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G <BR> <BR> <BR> Tubulin S Tumor susceptibility gene 101 TSG101 G Tumour necrosis factor (TNF) receptor TRAF1 I associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 I associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 I associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 I associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 ! associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 I associated factor 6 Tumour necrosis factor alpha TNFA I Tumour necrosis factor alpha receptor TNFAR I Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G Tumour protein p73 TP73 G Tumourprotein, translationally-controlled 1 TPT1 G Tumour suppresssor gene DRA DRA I Ubiquitin G Ubiquitin activating enzyme, E1 E Ubiquitin B UBB G Ubiquitin C UBC G Ubiquitin fusion degeneration 1-like UFD1L G Ubiquitin protein ligase E3A UBE3A E COL14A1SUndulin1 Uridine monophosphate kinase UMPK Uridine monophosphate synthetase UMPS Uroporphyrinogen III synthase UROS E IVimentinVIM v-myc avian myelocytomatosis viral oncogene MYC G homolog Von Hippel-Lindau gene VHL G Werner syndrome helicase WRN G <BR> <BR> Wilms tumour gene 1 WT1 G Wilms tumour gene 2 WT2 G Wilms tumour gene 4 WT4 G Winged helix nude WHN G proteinWASP,THCIWiskott-Aldrichsndrome Xanthine dehydrogenase XDH E X-ray repair gene XRCC9 G protein198ZIC198SZincfinger Zinc finger protein HRX ALL1 I In a twelfth aspect.

DEVELOPMENT The present invention relates to a method of assessing the risk of developing clinical or social consequences following dysfunction, damage or disease of the body consequent to an aberration in the processes of development and indicating appropriate therapeutic interventions.

The process by which fertilisation of an egg leads to the formation and growth of a foetus, birth of a baby and the maturation of an adolescent into an adult are collectively described as development. An understanding of the genetic and molecular events directing the development and differentiation of cells into tissues and organs is slowly being understood (Gilbert 1997). The intricate nature of the interactions between cells as they divide and differentiate is mediated by a host of regulatory systems including: DNA methylation Transcriptional regulation (e. g POU transcription factors) Differential RNA splicing Paracrine systems Signal transduction pathways (e. g. RTK-Ras, JAK-STAT, NOTCH) Neurotransmitter/receptor interaction Cell surface adhesion molecules In addition there are significant interactions between the developing organism and the environment (the womb and subsequently the external environment). In humans the process of development and maturation continues through to late 20's as the final stages of brain myelination occur.

The sheer complexity of these interactions and their subtle effects on the dynamics of organ formation and development mean that there are multiple opportunities for perturbation, failure or premature termination of the developmental trajectory. No tissue, organ or organ system in the body is immune to the possibility of dysfunction, damage or disease consequent to an aberration in the processes of development.

The spectrum of medical, psychological and social consequences consequent to an aberration in developmental processes is enormous (Weatherall, Leadingham and Warrell 1996). For example abnormalities of brain development are very frequent and often lead to lasting impairments in cognition and learning (some 3% of school leavers may have some degree of neurological impairement. Developmental disorders include: Down's syndrome (brain and other organs) Cruzon syndrome (skull) Congenital adrenal hyperplasia (endocrine system) Congenital hypothroidism (endocrine system) Hirchsprung's disease (gastrointestinal system) Pyloric stenosis (gastrointestinal system) Aortic-valve stenosis (cardiovascular system) Mitral valve abnormalities (cardiovascular system) Spina bifida (spine) Cerebral palsy (central nervous system) Cystic fibrosis (respiratory system) The physiology and nature of dysfunction, damage or disease of the body consequent to an aberration in the processes of development are extremely complex. The exact spectrum of symptoms and attendant disability are derived from the nature of the lesion, its site and extent and the time at which it influenced the pattern of development. The presence of a clinical, psychological or social liability may also change over time since the manifestations of the difficulties at birth, adolescence or adulthood will alter as a function of the unfolding of development The interactions between the various proteins which form the constituent parts of the regulatory systems are critical in the control and modulation of development.

Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or modulate a tissues ability to minimise developmental aberrations and restore function following dysfunction, damage or disease in the development of these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from dysfunction, damage or disease of the body consequent to an aberration in the processes of development. These include genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio-economic circumstances.

Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to the occurrence of dysfunction, damage or disease of the body consequent to an aberration in the processes of development and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the health and social management of dysfunction, damage or disease of the body consequent to an aberration in the processes of development.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION DEVELOPMENT GENE LIST HUGO gene Protein symbol function 17-ketosteroid reductase N 2,4-dienoyl CoA reductase DECR E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 3-oxoacidCoA transferase OXCT E 6-pyruvoyltetrahydropterin synthase PTS E Absent in melanoma 1 gene AIM1 G Acetoacetyl 2-CoA-thiolase ACAT2 E Acetyl CoA acyltransferase ACAA E Acetyl CoA carboxylase alpha ACACA E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetylcholine receptor, nicotinic, beta 3 CHRNB3 N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N Acetylcholinesterase ACHE E Achromatopsia2 ACHM2 S Acid phosphatase 2, lysosomal ACP2 E Acrosin ACR G Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Activin G Activin A receptor, type 2B ACVR2B G Activin A receptor, type 2-like kinase 1 ACVRL1 G Acyl CoA dehydrogenase, short chain ACADS E Acyl-CoAthioesterase E ADAM (A disintegrin and metalloproteinase) 1 ADAM1 E ADAM (A disintegrin and metalloproteinase) 10 ADAM10 E ADAM (A disintegrin and metalloproteinase) 11 ADAM11 E ADAM (A disintegrin and metalloproteinase) 12 ADAM12 E ADAM (A disintegrin and metalloproteinase) 13 ADAM13 E ADAM (A disintegrin and metalloproteinase) 14 ADAM14 E ADAM (A disintegrin and metalloproteinase) 15 ADAM15 E ADAM (A disintegrin and metalloproteinase) 16 ADAM16 E ADAM (A disintegrin and metalloproteinase) 17 ADAM17 E ADAM (A disintegrin and metalloproteinase) 18 ADAM18 E ADAM (A disintegrin and metalloproteinase) 19 ADAM19 E ADAM (A disintegrin and metalloproteinase) 2 ADAM2 E ADAM (A disintegrin and metalloproteinase) ADAM3A E 3A ADAM (A disintegrin and metalloproteinase) ADAM3B E 3B ADAM (A disintegrin and metalloproteinase) 4 ADAM4 E ADAM (A disintegrin and metalloproteinase) 5 ADAM5 E ADAM (A disintegrin and metalloproteinase) 6 ADAM6 E ADAM (A disintegrin and metalloproteinase) 7 ADAM7 E ADAM (A disintegrin and metalloproteinase) 8 ADAM8 E ADAM (A disintegrin and metalloproteinase) 9 ADAM9 E Adducin, alpha ADD1 S Adducin, beta ADD2 S Adenomatous polyposis coli tumour supressor APC G gene Adenosine deaminase ADA E Adenosine monophosphate deaminase AMPD E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenyl cyclase N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adenylosuccinate lyase ADSL E <BR> <BR> ADP-ribosyltransferase ADPRT E Adrenergicreceptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Adrenoleukodystrophy gene ALD E <BR> <BR> Alanine-glyoxylate aminotransferase AGXT E Albumin, ALB ALB T Aldehyde dehydrogenase 1 ALDH1 E Aldehyde dehydrogenase 10 ALDH10 E 2ALDH2EAldehydedehydrogenase Aldehyde dehydrogenase 5 ALDH5 E Aldehyde dehydrogenase 6ALDH6E 7ALDH7EAldehydedehydrogenase <BR> <BR> A!doiaseAALDOAE Aldolase BALDOBE <BR> <BR> Aldolase C ALDOC E MLRGAldosteronereceptor Alkaline phosphatase, liver/bone/kidney ALPL T <BR> <BR> Alkaptonuria gene AKU G Alkylglycerone phosphate synthase AGPS E Alpha 2 macroglobulin A2M I <BR> <BR> alpha tectorin TECTA G alpha thalassemia gene ATRX N Ealpha1-antitrypsinPI alpha2-antiplasmin PLI E alpha-actinin 2 ACTN2 G alpha-actinin 3 ACTN3 G <BR> <BR> atpha-amytaseE Alpha-fetoprotein AFP G alpha-Galactosidase A GLA E <BR> <BR> alpha-ketoglutarate dehydrogenaseE alpha-L-lduronidase IDUA E alpha-synuclein SNCA N <BR> <BR> Amelogenin AMELX S<BR> <BR> <BR> <BR> <BR> Aminomethyltransferase AMT E Aminopeptidase P XPNPEP2 E Amphiregulin AREG G Amylo-1, 6-glucosidase AGL E Amyloid beta (A4) precursor protein-binding, APBB1 N APBB1 <BR> <BR> <BR> Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Androgen binding protein ABP T Androgen receptor AR G Angiopoietin GANGPT1 Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensinogen AGT E Ankyrin SANK1 AnkyrinSANK2 AnkyrinSANK3 Antidiuretic hormone receptor ADHR T Anti-Mullerian hormone AMH G Anti-Mullerian hormone type 2 receptor AMHR2 G Antithrombin f!AT3E AP-2, alpha TFAP2A G AP-2, beta TFAP2B G AP-2, gamma TFAP2C G Apaf-1S Apical protein, xenopus GAPXL Apolipoprotein A 4APOA4T <BR> <BR> Apo)ipoproteinA)APOA1T Apolipoprotein A NAPOA2T Apolipoprotein BAPOBT Apolipoprotein C1APOC1T Apolipoprotein C2APOC2T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein EAPOET Apolipoprotein HAPOHT Apopain CPP32 G Apoptosis antigen 1APT1t Apoptosis antigen ligand 1 APT1LG1 Apoptosis-inducing factor AIF F) Apurinic endonuclease APE E Archaete-scute homolog 1 ASH1 G Archaete-scute homolog 2 ASH2 G Arginosuccinate synthetase ASS E <BR> <BR> ArrestinSAGS Aryl hydrocarbon receptor AHR T Aryl hydrocarbon receptor nuclear translocator ARNT T <BR> <BR> Ary!su!fataseAARSAE Arylsulfatase BARSBE <BR> <BR> Aryisulfatase C ARSC1 E<BR> <BR> <BR> <BR> <BR> Ary!su)fataseDARSDE<BR> <BR> <BR> <BR> <BR> Arylsulfatase EARSEE<BR> <BR> <BR> <BR> <BR> <BR> Aryisulfatase F ARSF E Aspartate transaminase T Aspartate transcarbamoytaseE <BR> <BR> Aspartoacylase ASPA E<BR> <BR> <BR> <BR> <BR> Asparty!g)ucosamin!daseAGAE Astrotactin ASTN G Ataxia telangiectasia complementation group D ATD, ATDC G Ataxia telangiectasia gene, AT ATM G <BR> <BR> Ataxin 1 SCA1 G<BR> <BR> <BR> <BR> <BR> <BR> Ataxin 2 SCA2 G Ataxin 3 MJD G <BR> <BR> ATP-binding cassette transporter 7 ABC7! Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G peptidereceptorBNPR2GAtrialnatriuretic Atrial natriuretic peptide receptor C NPR3 G Atrophin 1 DRPLA G Attractin Autoimmune regulator, IAIRE Azoospermia factor 1 AZF1 G Bagpipe homeobox, drosophila homolog of, 1 BAPX1 G <BR> <BR> B-cell CLUlymphoma 1 BCL1 I B-cell CLL/lymphoma 10BCL10 <BR> <BR> B-cell CLUlymphoma 3BCL3 B-cell CLL/lymphoma 4BCL4 5BCL5IB-cellCLL/lymphoma B-cell CLL/lymphoma 6 BCL6 <BR> <BR> B-cell CLL/lymphoma 7BCL7 B-cell CLUlymphoma 8BCL8 <BR> <BR> B-cell CLL/lymphoma 9BCL9 BCL2-associated X protein BAX G BCL2-related protein A1BCL2A1 G Beckwith-Wiedemann region 1A BWR1A G Bestrophin VMD2 T beta 2 IB2M beta-endorphin receptor N beta-Glucuronidase GUSB E beta-N-acetylhexosaminidase, A E beta-N-acetylhexosaminidase, B E Bilirubin UDP-glucuronosyltransferase E Bleomycin hydrolase BLMH E Bloom syndrome protein BLM G Blue cone SBCP Bone morphogenetic protein, BMP1 BMP1 G Bone morphogenetic protein, BMP2 BMP2 G Bone morphogenetic protein, BMP3 BMP3 G Bone morphogenetic protein, BMP4 BMP4 G Bone morphogenetic protein, BMP5 BMP5 G Bone morphogenetic protein, BMP6 BMP6 G Bone morphogenetic protein, BMP7 BMP7 G Bone morphogenetic protein, BMP8 BMP8 G Brain derived neurotrophic factor BDNF G Brain derived neurotrophic factor (BDNF) BDNFR G receptor Branched chain aminotransferase 1, cytosolic BCAT1 E Branched chain aminotransferase 2, BCAT2 E mitochondrial BRCA1-associated RING domain gene 1 BARD1 G Breakpoint cluster region BCR G Breast cancer 1BRCA1 G Breast cancer 2 BRCA2 G Breast cancer, ductal, 1 BRCD1 G Breast cancer, ductal, 2 BRCD2 G Bruton agammaglobulinaemia tyrosine kinase BTK G Butyrylcholinesterase BCHEE C3 convertase E Ca (2+) transporting ATPase, fast twitch ATP2A1 T Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1S N alpha 1S subunit Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calcium channel, voltage-dependent, T-type N Calcium sensing receptor CASR T Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin dependant kinase T Calmodulin-dependant protein kinase 11 CAMK2A G Calnexin CANX G Calpain CAPN, CAPN3 E Canalicular multispecific organic anion CMOAT T transporter Carbamoylphosphate synthetase 1 CPS1 E Carbamoylphosphate synthetase 2 CPS2 E Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Cardiac-specific homeobox, CSX CSX G Carnitine acetyttransferaseCRATE <BR> <BR> CarnitineacytcarnitinetransiocaseCACTE Carnitine transporter protein CDSP, SCDT <BR> <BR> Cartilage oligomeric matrix protein COMP, EDM1,N PSACH <BR> <BR> <BR> Cartitage-hairhypopiasiageneCHHN Caspase 1 CASP1 G <BR> <BR> Caspase 10 CASP10 G Caspase 2 CASP2 G Caspase 3 CASP3 G Caspase 4 CASP4 G Caspase 5 CASP5 G Caspase 6 CASP6 G Caspase 7 CASP7 G Caspase 8 CASP8 G Caspase 9 CASP9 G Catechol-O-methyltransferase COMT E Catenin, alpha CTNNA1 G Catenin, beta CTNNB1 G Catenin, gamma G Cathepsin K CTSK E Caveolin 3 CAV3 E <BR> <BR> CD1 CD1 CD44! Cdc 25 phosphatase G Cdc2 CDC2 G <BR> <BR> CDX1 G CEA G Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-endothelial, LECAM1 G LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G <BR> <BR> <BR> Cellubrevin CEB N Gc-erbB1ERBB1 c-erbB2 ERBB2 G c-erbB3 ERBB3 G <BR> <BR> <BR> c-erbB4 ERBB4 G Ceroid lipofuscinosis neuronal 2 CLN2 N Ceroid lipofuscinosis neuronal 3 CLN3 N Ceroid lipofuscinosis neuronal 4 CLN4 N Ceroid lipofuscinosis neuronal 5 CLN5 N Ceroid lipofuscinosis neuronal 6 CLN6 N Chediak-Higashi syndrome 1 gene CHS1 T Chemokine MCAF MCAF I Chemokine receptor CCR2 CCR2 I Chemokine receptor CCR3 CCR3 I Chemokine receptor CCR5 CCR5 I Chemokine receptor CXCR1CXCR1 Chemokine receptor CXCR2CXCR2 Chemokine receptor CXCR4CXCR4 5CLCN5SChloridechannel Cholestasis, progressive familial intrahepatic 1 FIC1 G gene Cholesterol ester transfer protein CETP T Choline acetyltransferase CHAT E Choroideremiagene CHM S Chromogranin A CHGA G Ciliary neurotrophic factor (CNTF) CNTF G Ciliary neurotrophic factor (CNTF) receptor CNTFR G c-kit receptor tyrosine kinase G Clathrin T Cleavage signal-1 protein CS1 G Cleft palate gene CPX G Clusterin CLU G CoA transferase E <BR> <BR> <BR> Cochlin COCH I Cockayne syndrome gene, CKN1 CKN1 G Collage I alpha 1 COL1A1 S Collage I alpha 2 COL1A2 S <BR> <BR> Collagen II alpha 1 COL2A1 S Collage III alpha 1 COL3A1 S Collage IV alpha 1 COL4A1 S alpha2COL4A2SCollagenIV Collagen 3COL4A3Salpha <BR> <BR> Collagen IV alpha 4 COL4A4 S Collagen 5COL4A5Salpha alpha6COL4A6SCollagenIV Collagen IX alpha 2 COL9A2, EDM2 S alpha32COL9A3SCollagenIx Collagen receptor COLR S Collage V alpha 1 COL5A1 S Collage V alpha 2 COL5A2 S alpha1COL6A1SCollagenVI Collagen VI COL6A2S2 Collagen VI alpha 3 col6a3 s Coliagen VII alpha 1 col7a1 s <BR> <BR> Co)iagenXa!pha1COL10A1S<BR> <BR> <BR> <BR> <BR> Collagen X aipha 1 COL11A1 S Collagen XI alpha 2 COL11A2 S alpha1COL17A1SCollagenXVII Collagenic-like tail subunit of asymmetric COLQ E acetylcholinesterase Collapsin G Colony-stimulating factor 1 CSF1 G <BR> <BR> Colony-stimulating factor 1 receptor CSF1 R G<BR> <BR> <BR> <BR> Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Colony-stimulating factor 2 beta receptor CSF2RB G Colony-stimulating factor GCSF3 <BR> <BR> Colony-stimulating factor 3 receptor CSF3R G Complex V MTATP6 E Cone-rod homeobox-containing gene CRX G Contactin CNTN1 G Core-binding factor, alpha 1 CBFA1 G Core-binding factor, alpha 2 CBFA2 G Core-binding factor, beta CBFB G Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Creatine kinase-B and m CKBE E Creb binding protein CREBBP G Cryptochrome 1 CRY1 S Cryptochrome 2 CRY2 S Crystallin, alpha A CRYAA S Crystallin, alpha B CRYAB S Crystallin, beta B2 CRYBB2 S Crystallin, gamma A CRYGA S c-src tyrosine kinase CSK G Cu2+ transporting ATPase alpha polypeptide ATP7A E Cu2+ transporting ATPase beta polypeptide ATP7B E Cubilin CUBN T Cyclic AMP response element binding protein CREB G Cyclic AMP response element modulator CREM G Cyclic AMP-dependent protein kinase PKA E Cyclic nucleotide gated channel alpha 1, CNGA1 N CNGA1 Cyclic nucleotide gated channel alpha 3, CNGA3 N CNGA3 Cyclic nucleotide PDE1BE1B Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A Cyclic nucleotide phosphodiesterase 6BPDE6BE Cyclic nucleotide phosphodiesterase 7PDE7E Cyclic nucleotide phosphodiesterase8PDE8E Cystic nucleotide phosphodiesterase 9APDE9AE <BR> <BR> Cyclin A CCNA G Cyclin B CCNB G Cyclin C CCNC G Cyclin GCCND1 Cyclin GCCNE Cyclin GCCNF 1CDK1GCyclin-dependentkinase <BR> <BR> Cyclin-dependent kinase 10 CDK10 G<BR> <BR> <BR> <BR> <BR> Cyclin-dependent kinase 2 CDK2 G Cyclin-dependent kinase 3 CDK3 G Cyclin-dependent kinase 4 CDK4 G <BR> <BR> Cyclin-dependentkinase 5 CDK5 G Cyclin-dependent kinase 6 CDK6 G Cyclin-dependent kinase 7 CDK7 G <BR> <BR> Cyclin-dependent kinase 8 CDK8 G Cyclin-dependent kinase 9 CDK9 G Cyclin-dependent kinase inhibitor 1A (P21, CDKN1A G CIP1) Cyclin-dependent kinase inhibitor 1B (P27, CDKN1B G KIP1) Cyclin-dependent kinase inhibitor 1 C (P57, CDKN1C G KIP2) Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G <BR> <BR> Cyclin-dependent kinase inhibitor 3 CDKN3 G Cyclooxygenase 1COX1E Cyclooxygenase 2COX2E <BR> <BR> CYP11A1CYP11A1E<BR> <BR> <BR> <BR> <BR> CYP11B1CYP11B1E<BR> <BR> <BR> <BR> <BR> CYP11B2CYP11B2E<BR> <BR> <BR> <BR> <BR> <BR> CYP17CYP17E<BR> <BR> <BR> <BR> <BR> CYP19CYP19E ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E CYP1B1CYP1B1E CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1PDDRE<BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2A13CYP2A13E<BR> <BR> <BR> <BR> <BR> CYP2A3CYP2A3E CYP2A6V2 CYP2A6V2 E <BR> <BR> CYP2A7CYP2A7E CYP2B6CYP2B6 CYP2C18 CYP2C18 E<BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E<BR> <BR> <BR> <BR> CYP2J2CYP2J2E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 <BR> <BR> CYP4B1 CYP4B1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cystinosin CTNS T Cytidine deaminase CDA E Cytochrome b-245 alpha CYBA E Cytochrome b-245 beta CYBB E Cytochrome b-5 CYB5 E DAX1nuclear receptor DAX1 I Deafness autosomal dominant 5 DFNA5 N Deafness dystonia peptide DDP N Defender against cell death 1 DAD1 G Deleted in azoospermia DAZ G Deleted in colorectal carcinoma DCC G Deleted in malignant brain tumours 1 DMBT1 G Delta aminolevulinate dehydratase ALAD E Delta (4)-3-oxosteroid 5-beta-reductase E Delta-7-dehydrocholesterol reductase DHCR7 E Dentin sialophosphoprotein DSPP G Deoxyuridine triphosphatase; dUTPase E Desert hedgehog, dhh G DHEAsulfotransferase STD E Diaphanous 1 DIAPH1 N Diaphanous 2 DIAPH2 N <BR> <BR> Diastrophic dysplasia sulfate transporter DTD T Dihydrolipoamide branched chain transacylase DBT N Dihydrolipoamide dehydrogenase DLD N Dihydrolipoyl dehydrogenase 2 PDHA E<BR> <BR> <BR> <BR> <BR> Dihydrolipoyl transacetylase PDHA E Dihydroorotase E <BR> <BR> Dihydroxyacetonephosphate acyltransferase DHAPAT E Disrupted meiotic cDNA 1, homolog DMC1 G Distal-less homeobox 1 DLX1 G <BR> <BR> <BR> Distal-less homeobox 2 DLX2 G Distal-less homeobox 3 DLX3 G Distal-less homeobox 4 DLX4 G Distal-less homeobox 5 DLX5 G Distal-less homeobox 6 DLX6 G DNA damage binding protein, DDB1 DDB1 s DNA damage binding protein, DDB2 DDB2 S DNA directed polymerase, alpha POLA E DNAglycosylases E DNAhelicases E <BR> <BR> <BR> DNA Ligase 1 LIG1 E DNAmethyltransferase DNMT E DNA polymerase 1 E DNA polymerase 2 E DNA polymerase 3 E DNAprimase E DNA-damage-inducible transcript 3 DDIT3 S DNA-dependant RNA polymerase E DOPA decarboxylase DDC E Doublecortin, SDCX Duffy blood group FY T GDynaminDNM1 DyneinG <BR> <BR> Dyskerin DKC1 S Dystonia 1 DYT1 S Dystonia 3 DYT3 S Dystonia 6 DYT6 S Dystonia 7 DYT7 S Dystonia 9 CSE S Dystrophia myotonica DM, DMPK E Dystrophia myotonica, atypical DM2 E <BR> <BR> Dystrophin DMD S Dystrophin-associated glycoprotein 35kD, SGCD S SCGD Dystrophin-associated glycoprotein 35kD, SGCG S SGSG Dystrophin-associated glycoprotein 43kD SGCB S Dystrophin-associated glycoprotein 50kD SGCA S E74-like factor 1, ELF1 ELF1 G EB1G Ectodermal Dysplasia 1 gene ED1 S Electron-transfering-flavoprotein alpha ETFA T E!ectron-transfering-navoproteinbetaETFBT<BR> <BR> <BR> <BR> E!ectron-transferringftavoproteinETFDHE dehydrogenase Empty spiracles (drosophila) homologue 1 EMX1 G Empty spiracles (drosophila) homologue 2 EMX2 G <BR> <BR> EndobrevinVAMPSN Endocardial fibroelastosis 2 gene EFE2 g Endometrial bleeding-associated factor EBAF G Endothelin 1EDN1N <BR> <BR> Endothe)in2EDN2N<BR> <BR> <BR> <BR> <BR> Endothe!in3EDN3N Endothelin converting enzymeECE1N Endothelin receptor type A EDNRA N Endothelin receptortypeBEDNRBN Engrailed-1 EN1 G <BR> <BR> Engrailed-2 EN2 G<BR> <BR> <BR> <BR> <BR> EnofaseEN01E Enoyt CoA isomerase E Enterokinase PRSS7, ENTK E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Ephrin-A EFNA G Ephrin-B EFNB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Epilepsy, benign neonatal 4 gene ICCA E Epilepsy, female restricted EFMR E Epilepsy, progressive myoclonic 2 gene EPM2A E Erythrocyte membrane protein band 4.1 EPB41 S Erythrocyte membrane protein band 4.2 EPB42 S Erythrocyte membrane protein band 7.2 EPB72 S Erythroid kruppel-like factor EKLF G <BR> <BR> Erythropoietin EPO I Erythropoietin receptor EPOR I Estrogen receptor ESR G Eukaryotic initiation translation factor EIF4E G EWS RNA-binding protein EWSR1 G Excision repair complementation group 1 ERCC1 E protein Excision repair complementation group 2 ERCC2 E protein Excision repair complementation group 2 ERCC3 E protein Excision repair complementation group 4 ERCC4 E protein Excision repair complementation group 6 ERCC6 E protein Exostosin 1 EXT1 S Exostosin 2 EXT2 S<BR> <BR> <BR> <BR> <BR> <BR> Exostosin 3 EXT3 S Eyes absent 1 EYA1 G Eyes absent 2 EYA2 G Eyes absent 3 EYA3 G Faciogenital dysplasia FGD1, FGDY T Factor 1 (No. one) F1 Factor B, I Factor D Factor H HF1 <BR> <BR> <BR> Factor I (letter 1) IF F3IFactorIII <BR> <BR> <BR> Factor IX F9 Factor V F5 I Factor Vil F7 I Factor Vlil F8 Factor X F10 Factor IF11 Factor XII F12 I Factor XIII A & B F13A & F13B I Fanconi anemia, complementation group A FANCA T Fanconi anemia, compiementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fc fragment of IgG, high affinity IA, receptor for FCGR1A G Fc fragment of IgG, low affinity IIa, receptor for FCGR2A G (CD32) Fc fragment of IgG, low affinity Illa, receptor for FCGR3A G (CD16) Fc receptor I Fertilin protein FTNB G Fibrillin 1 FBN1 G Fibrillin 2 FBN2 G Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Flavin-containing monooxygenase 1 FMO1 E Flavin-containing monooxygenase 2 FM02 E Flavin-containing monooxygenase 3 FM03 E Flavin-containing monooxygenase 4 FM04 E Flightiess-ll, Drosophila homolog of FLII G Folic acid receptor FOLR G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Follicular lymphoma variant translocation 1 FVT1 I Follistatin G Forkhead rhabdomyosarcoma gene FKHR G Forkhead transcription factor 10 FKHL10 G Forkhead transcription factor 14 FKHL14 G Forkhead transcription factor 7 FKHL7 G Formiminotransferase E Fragile site, folic acid type, rare, fra (X) A FRAXA N Fragile site, folic acid type, rare, fra (X) E FRAXE N Fragile site, folic acid type, rare, fra (X) F FRAXF N Frataxin FRDA G Fringe secreted protein, lunatic LFNG G Fringe secreted protein, manic MFNG G Fringe secreted protein, radical RFNG G Fructose-1,6-diphosphatase FBP1 E Fucosyltransferase 6 FUT6 T Fukuyama type congenital muscular dystrophy FCMD G Fumarase FH E Fumarylacetoacetase FAH E G/T mismatch binding protein GTBP, MSH6 G GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N <BR> <BR> GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABAtransaminase ABAT E Gadd45 (growth arrest & DNA-damage-inducible protein) E <BR> <BR> Galactocerebrosidase GALC E Galactokinase GALK1 E <BR> <BR> <BR> Galactose 1-phosphate uridyi-transferase GALT E Galactosyltransferase 1 GT1 G Galactosyltransferase, alpha 1,3 GGTA1 G Galactosyltransferase, beta 3 B3GALT G <BR> <BR> Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyl carboxylase GGCX T Gap junction protein alpha 1 GJA1 T Gap junction protein alpha 3 GJA3 T Gap junction protein alpha 8 GJA8 T Gap junction protein beta 1 GJB1 T Gap junction protein beta 2 GJB2 T Gap junction protein beta 3 GJB3 T Gastric Intrinsic factor, GIF GIF E Gastrin GAS G Gastrin releasing peptide GRP T Gastrointestinal tumor-associated antigen 1GA733) Gastrulation brain homeobox 2 GBX2 G GDP dissociation inhibitor 1 GDI1 G Gelsolin GSN G Geniospasm 1 GSM1 G <BR> <BR> GephyrinN Glial-cell derived neurotrophic factor (GDNF)N receptor Glial-cell derived neurotrophic factor, GDNF GDNF N Glioma chloride ion channel, GCC G Glucagon receptor GCGR G Glucagon-like peptide receptor 1 GLP1 R G Glucocorticoid receptor GRL G Glucose-6-phosphatase translocase G6PT1 E Glucosidase, acid alpha GAA E Glucosidase, acid beta GBA E <BR> <BR> <BR> Glutamate decarboxylase, GAD GAD1 E<BR> <BR> <BR> <BR> <BR> <BR> Glutamate-cysteine ligase GLCLC E Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E Glutathione peroxidase, GPX2 GPX2 E Glutathione reductase, GSR GSR E Glutathione S-transferase mu 1, GSTM1 GSTM1 E Glutathione S-transferase mu 4, GSTM4 E Glutathione S-transferase theta 1, GSTT1 GSTT1 E Glutathione S-transferase theta 2, GSTT2 E Glutathione S-transferase, GSTP1 GSTP1 E Glutathione S-transferase, GSTZ1 GSTZ1 E Glutathione synthetase GSS E <BR> <BR> Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine dehydrogenase GLDC E Glycine receptor, alpha GLRA2 N Glycine receptor, beta N Glycogen branching enzyme GBE1 E Glycogen phosphorylase PYGL E Glycogen synthase 1 (muscle) GLYS1 E Glycogen synthase 2 (liver) GYS2 E Glycosyltransferases, ABO blood group ABO E Glypican 3 GPC3, SDYS G <BR> <BR> GM2 ganglioside activator protein, GM2A GM2A E Gonadotropin releasing hormone GNRH G Gonadotropin releasing hormone receptor GNRHR G Goosecoid GSC G Green cone pigment GCP S Growth arrest-specific homeobox GAX G Growth factor receptor-bound protein 2 GRB2 G Growth hormone 1 GH1 G Growth hormone 2 (placental) GH2 G Growth hormone receptor GHR G Growth hormone releasing hormone (GHRH) GHRH G Growth hormone releasing hormone receptor GHRHR G Growth/differentiation factor 5 GDF5 G <BR> <BR> Growth-regulated protein precursor, GRO GRO I GTP cylcohydrolase 1 GCH1 G GTPase-activating protein, GAP RASA1 G Guanidinoacetate N-methyltransferase GAMT E Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNA ! 1 N inhibiting activity polypeptide 1, GNAt1 Guanine nucleotide-binding protein, alpha GNA12 N inhibiting activity polypeptide 2, GNA12 Guanine nucleotide-binding protein, alpha GNA13 N inhibiting activity polypeptide 3, GNA13 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucieotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanylate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylate kinase E Gustducin, alpha (taste-specific G protein) GDCA N Haeme regulated inhibitor kinase E Haemoglobin epsilon T Hairless HR G Haptoglobin, alpha 1 HPA1 Haptoglobin, atpha2HPA2 Haptoglobin, betaHPB Heat shock protein, I Heat shock protein, I Heat shock protein, I Heat shock protein, I Heat shock protein, I Hela tumor suppression gene HTS1 G <BR> <BR> HemochromatosisHFET<BR> <BR> <BR> <BR> <BR> HemopexinHPX) Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G Hepatic nudearfactor-3-betaHNF3BE Hepatic nuciearfactor-4-aiphaHNF4AE Hepatitis B virus integration site 1HVBS1! Hepatitis B virus integration site 2HVBS6i Hepatocyte growth factor HGF G Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E High mobility group protein 1 HMG1 G Highmobility group protein 2 HMG2 G High mobility group protein C HMGIC G High mobility group protein Y HMGIY G H1H1GHistonefamily Histone family H2 H2 G Histone family H3 H3 G Histone family H4 H4 G HLA-B associated transcript 1 BAT1 I HLH transcription factor HAND1 HAND1 G HLH transcription factor HAND2 HAND2 G HMGCLEHMG-ClAlyase HMG-CoA reductase HMGCR E HMG-CoAsynthase HMGCS2 E Holocarboxylase synthetase HLCS E HPE1GHoloprosencephaly1 Holoprosencephaly 2 HPE2 G <BR> <BR> Holoprosencephaly 3 HPE3 G Holoprosencephaly 4 HPE4 G Homeobox (HOX) gene A1 HOXA1 G Homeobox (HOX) gene A10 HOXA10 G Homeobox (HOX) gene A11 HOXA11 G Homeobox (HOX) gene A12 HOXA12 G Homeobox (HOX) gene A13 HOXA13 G Homeobox (HOX) gene A2 HOXA2 G Homeobox (HOX) gene A3 HOXA3 G Homeobox (HOX) gene A4 HOXA4 G Homeobox (HOX) gene A5 HOXA5 G Homeobox (HOX) gene A6 HOXA6 G Homeobox (HOX) gene A7 HOXA7 G Homeobox (HOX) gene A8 HOXA8 G Homeobox (HOX) gene A9 HOXA9 G Homeobox (HOX) gene B1 HOXB1 G Homeobox (HOX) gene B2 HOXB2 G Homeobox (HOX) gene B3 HOXB3 G Homeobox (HOX) gene B4 HOXB4 G Homeobox (HOX) gene B5 HOXB5 G Homeobox (HOX) gene B6 HOXB6 G Homeobox (HOX) gene B7 HOXB7 G Homeobox (HOX) gene B8 HOXB8 G Homeobox (HOX) gene B9 HOXB9 G Homeobox (HOX) gene C13 HOXC13 G Homeobox (HOX) gene C4 HOXC4 G Homeobox (HOX) gene C8 HOXC8 G Homeobox (HOX) gene C9 HOXC9 G Homeobox (HOX) gene D1 HOXD1 G Homeobox (HOX) gene D10 HOXD10 G Homeobox (HOX) gene D12 HOXD12 G Homeobox (HOX) gene D13 HOXD13 G Homeobox (HOX) gene D3 HOXD3 G Homeobox (HOX) gene D4 HOXD4 G Homeobox (HOX) gene D8 HOXD8 G Homeobox (HOX) gene D9 HOXD9 G Homeobox 11 HOX11 G Homeobox HB24 HLX1 G Homeobox HB9 HLXB9 G Homeobox, PROX1 PROX1 G HSSB, replication protein E Human atonal gene ATOH1 G Human chorionic gonadtrophin, hCG CG G Human placental lactogen CSH1 G Huntingtin HD T Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E IC7 A and B I Iduronate 2 sulphatase IDS E Ikaros gene IKAROS G Immunoglobulin alpha (IgA) IGHA I <BR> <BR> Immunoglobulin delta (IgD) IGHD I Immunoglobulin E (IgE) reponsiveness gene IGER Immunoglobulin E (IgE) serum concentration IGES I regulator gene <BR> <BR> Immunoglobulin epsilon (IgE) IGHE Immunoglobulin gamma (IgG) 2 IGHG2 Immunoglobulin heavy mu chain IGHM Immunoglobulin J polypeptide IGJ I Immunoglobulin kappa constant region IGKC I variableregionIGKVIImmunoglobulinkappa Indian hedgehog, ihh IHH G Inhibin, alpha INHA G AINHBAGInhibin,beta Inhibin, beta B INHBB G Inhibin, beta C INHBC G Inosine monophosphate dehydrogenase, E IMPDH Inositol 1,4,5-triphosphate receptor 1 ITPR1 G Inositol 1,4,5-triphosphate receptor 3 ITPR3 G Insulin INS G Insulin promotor factor 1 IPF1 G Insulin receptor INSR G Insulin receptor substrate-1 IRS1 G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Integrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G Integrin beta 5 ITGB5 G Integrin beta 6 ITGB6 G Integrin beta 7 ITGB7 G Integrin, alpha 1 ITGA1 G Integrin, alpha 2 ITGA2 G Integrin, alpha 3 ITGA3 G Integrin, alpha 4 ITGA4 G Integrin, alpha 5 ITGA5 G Integrin, alpha 6 ITGA6 G Integrin, alpha 7 ITGA7 G Integrin, alpha 8 ITGA8 G Integrin, alpha 9 ITGA9 G Integrin, alpha M ITGAM G Integrin, alpha X ITGAX G Inter-alpha-trypsin inhibitor, IATI E Intercellular adhesion molecule 1 ICAM1 I Intercellular adhesion molecule 2 ICAM2 I Intercellular adhesion molecule 3 ICAM3 I Interferon alpha IFNA1 I Interferon beta IFNB I Interferon gamma IFNG I Interferon gamma receptor 1 IFNGR1 I Interferon gamma receptor 2 IFNGR2 I Interferon regulatory factor 1 IRF1 I factor4IRF4IInterferonregulatory receptorIL1RIInterleukin(IL)1 Interteukin (IL) 1, alpha PLIA Interieukin (IL) 1, beta IL1 B <BR> <BR> Interieukin (IL) 10 IL10 Interleukin (IL) 10 receptor IL10R I IL11IInterleukin(IL)11 Interieukin (IL) 11 receptor!L11R IL12IInterleukin(IL)12 receptor,beta1IL12RB1IInterleukin(IL)12 Interleukin(IL) 13 I Interleukin (IL) 13 receptor IL13R Interieukin (IL) 2 IL2 I Interleukin (IL) 2 receptor, alpha IL2RA Interleukin (IL) 2 receptor, gamma IL2RG I IL3IInterleukin(IL)3 Interleukin(IL) 3 IIL3R Interieukin (IL) 4 IL4 I Interleukin(IL) 4 receptor IL4R IL5IInterleukin(IL)5 receptorIL5RIInterleukin(IL)5 IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R <BR> <BR> Interleukin (IL) 7 IL7 receptorIL7RIInterleukin(IL)7 IInterleukin(IL)8IL8 receptorIL8RIINterleukin(IL)8 Interleukin (IL) 9 IL9 I Interieukin (IL) 9 receptor IL9R Interleukin (IL) receptor antagonist 1 IL1RN, IL1RA I <BR> <BR> IP3 kinase E Eisocitratedehydrogenase Isovaleric acid CoA dehydrogenase IVD E Janus kinase 1 JAK1 G Janus kinase 2 JAK2 G Janus kinase 3 JAK3 G Kallman syndrome gene 1 KAL1 G Kell blood group precursor XK, KEL T Keratin SKRT1 Keratin SKRT10 Keratin SKRT11 Keratin SKRT12 Keratin SKRT13 Keratin SKRT14 Keratin SKRT15 Keratin SKRT16 Keratin 17 KRT17, PCHC1 S Keratin SKRT18 Keratin 2 KRT2 s <BR> <BR> Keratin 3 KRT3 S Keratin 4KRT4s Keratin 5KRT5s Keratin 6 KRT6 S Keratin 7 KRT7 S <BR> <BR> <BR> Keratin 8 KRT8 S Keratin 9 KRT9 S Ketohexokinase KHK E Kinectin KTN1 G Kinesin, heavy chain KNSL1 G Kinesin, light chain KNS2 G adhesionmoleculeL1CAMNL1cell Lactotransferrin LTF T Lamin A/C LMNA G Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G LamininM LAMM G Lamininreceptor 1 LAMR1 G Latent transforming growth factor-beta binding LTBP2 G protein 2 Leptin LEP G Leptin receptor LEPR G Leukaemia inhibitory factor LIF G Leukaemia inhibitory factor receptor LIFR G Leukin I Leukocyte-specific transcript ILST-1 Leukotriene A4 hydrolase Leukotriene A4 synthase LTA4S E Leukotriene B4 receptor I Leukotriene B4 synthase LTB4S E Leukotriene C4 receptor I Leukotriene C4 synthase LTC4S E Leukotriene D4/E4 receptor LH/choriogonadotropin (CG) receptor LHCGR G <BR> <BR> LIMhomeobox protein 1 LHX1 G<BR> <BR> <BR> <BR> <BR> LIM homeobox protein 2 LHX2 G LIM homeobox protein 3 LHX3 G LIM homeobox protein 4 LHX4 G LIM homeobox transcription factor 1, beta LMX1 B G Limb girdle muscular dystrophy 1A LGMD1A G Limb girdle muscular dystrophy 1 B LGMD1 B G Limb girdle muscular dystrophy 2G LGMD2G G Limb girdle muscular dystrophy 2H LGMD2H G Limbic associated membrane protein LAMP G <BR> <BR> Ll M-domain only protein 1 LMO 1 G protein2LMO2GL-1M-domainonly LIM-domain only protein 3 LM03 G LIM-domain only protein 4 LM04 G Lipoma-preferred partner gene LPP G Lipoprotein receptor, Low Density LDLR T Lipoxygenase 12 (platelets) LOG12 I Lipoxygenase 5 I Long QT-type 2 potassium channels LQT2, KCNH2 T SLoricrinLOR Low density lipoprotein receptor-related protein LRPT precursor Luteinizing hormone, beta chain LHB G Lymphoblastic leukemia derived sequence 1 LYL1 I Lymphocyte-specific protein tyrosine kinase LCK I Lymphoid enhancer-binding factor LEF-1 G Lysosome-associated membrane protein 1 LAMP1 G Lysosome-associated membrane protein 2 LAMP2 G MAD (mothers against decapentaplegic, MADH2 G Drosophila) homologue 2 MAD (mothers against decapentaplegic, MADH3 G Drosophila) homologue 3 MAD (mothers against decapentaplegic, MADH4 G Drosophila) homologue 4 MADS box transcription-enhancer factor 2A MEF2A G MADS box transcription-enhancer factor 2B MEF2B G MADS box transcription-enhancer factor 2C MEF2C G MADS box transcription-enhancer factor 2D MEF2D G <BR> <BR> Malate dehydrogenase, mitochondrial MDH2 E Malignant proliferation, eosinophil gene MPE I Malonyl CoA decarboxylase E Malonyl CoA transferase E Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E MAPK kinase 1 MAPKK1; MEK1 G MAPK kinase 4 MAPKK4; MEK4; G SERK1 MAPK kinase 6 MAPKK6; MEK6 G MAPKKkinase MAPKKK G <BR> <BR> MatrixGla protein MGP G 1MMP1EMatrixmetalloproteinase Matrix metalloproteinase 10 MMP10 E Matrix metalloproteinase 11 MMP11 E Matrix metalloproteinase 12 MMP12 E Matrix metalloproteinase 13 MMP13 E Matrix metalloproteinase 14 MMP14 E Matrix metalloproteinase 15 MMP15 E Matrix metalloproteinase 16 MMP16 E Matrix metalloproteinase 17 MMP17 E Matrix metalloproteinase MMP18 Matrix metalloproteinase 19 MMP19 E Matrix metalloproteinase 2 MMP2 E Matrix metalloproteinase 3 MMP3, STMY1 E Matrix metalloproteinase 4 MMP4 E Matrix metalloproteinase 5 MMP5 E Matrix metalloproteinase 6 MMP6 E Matrix metalloproteinase 7 MMP7 E Matrix metalloproteinase 8 MMP8 E Matrix metalloproteinase 9 MMP9 E MAX-interacting protein 1 MX ! 1 G MEK kinase, MEKK E Melanocortin 1 receptor MC1R T Melanocortin 2 receptor MC2R T Melanocortin 4 receptor MC4R T Menin MEN1 G Mesoderm-specific transcript MEST G Methionine adenosyltransferase MAT1A, MAT2A E Methionine synthase MTR E Methionine synthase reductase MTRR E Methylguanine-DNA methyltransferase MGMT E Methylmalonyl-CoA mutase MUT E Mevalonate kinase MVK E MHC Class IA MHC Class B MHC Class IC <BR> <BR> <BR> MHC Class I : LMP-2, LMP-7 I<BR> <BR> <BR> <BR> MHC Class I: Tap1 ABCR, TAP1 I<BR> <BR> <BR> <BR> <BR> MHC Class 11: DP HLA-DPB1 I<BR> <BR> <BR> <BR> MHC Class II : DQ I<BR> <BR> <BR> <BR> <BR> MHC Class li: DR I MHC Class II: Tap2 TAP2, PSF2I MHC Class lI : Complementation group A MHC2TAI MHC Class lI : Complementation group B rfxankI MHC Class lI: Complementation group C RFX5I MHC Class DRFXAPIgroup Microphthalmia-associated transcription factor MITF G Microsomal triglyceride transfer protein MTP T Microtuble associated protein MAP S Midline 1 MID1 G Mismatch repair gene, PMSL1 PMS1 G Mismatch repair gene, PMSL2 PMS2 G Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta subunit HADHB E Mitogen-activated protein (MAP) kinase MAPK G Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Monocyte chemoattractant protein 1 MCP1 I <BR> <BR> Motilin MLN G Msh homeobox homolog 1 MSX1 G Msh homeobox homolog 2 MSX2 G Mucolipidoses GNPTA E Mulibrey nanism MUL T Multidrug resistance associated protein MRP G Muscarinic receptor, M1CHRM1N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Muscle phosphorylase PYGM E Mutated in colorectal cancers, MCC MCC G MutL homoiog 1 MLH1 G MutS homolog 2 MSH2 G MutS homolog 3 MSH3 G Myeiin protein peripheral 22 PMP22 S Myelin proteinzero MPZ S Myelodysplasia syndrome 1 gene MDS1 G Myeloid leukemia factor-1 MLF1 I Myocilin MYOC T Myogenic factor 3 MYF3 G Myogenic factor 4 MYF4 G Myogenic factor 5 MYF5 G Myomesin 1 MYOM1 S Myomesin 2 MYOM2 S Myosin 15 MY015 S Myosin 6 MY06 S Myosin 7A MY07A S Myosin, cardiac MYH7 S <BR> <BR> Myotubularin MTM1 S Na+, alphaATP1A1GATPase, Na+, K+ ATPase, beta 1 ATP1B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ exchanger 1 NHE1 T Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T N-acetylgalactosamine-6-sulfate sulfatase GALNS E N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E <BR> <BR> N-acetyltransferase 1 NAT1 E N-acetyltransferase 2 NAT2 E NADH dehydrogenase E NADH dehydrogenase (ubiquinone) Fe-SNDUFS1E protein 1 NADH dehydrogenase (ubiquinone) Fe-SNDUFS4E protein 4 NADH dehydrogenase (ubiquinone) NDUFV1E flavoprotein 1 NADH-cytochrome b5 reductase!A1E NADPH-dependent cytochrome P450POPE reductase Natural resistance-associated macrophageNRAMP1j protein 1 <BR> <BR> NB6) Necdin NDN G Nephronophthisis 1NPHP1T Nephronophthisis 2 NPHP2 T Nephrosis 1NPHS1T Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neural retina-specific gene NRL G Neuraminidase sialidase NEU T Neuregulin HGL G Neurite growth-promoting factor 2 MDK N Neurite inhibitory protein N 1NEC1,PCSK1ENeuroendocrineconvertase Neurofibromin 1 NF1 G Neurofibromin2 NF2 G <BR> <BR> <BR> Neurofilamentprotein, heavy NFH S Neurofilament protein, NF125 NF150 S <BR> <BR> Neurofilamentprotein, NF200 NF200 S<BR> <BR> <BR> <BR> <BR> Neurofilamentprotein, NF68 NF68 S Neuronal apoptosis inhibitory protein NAIP I Neuronal molecule-1 I Neuronal molecule-1 receptor I Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotrophic tyrosine kinase receptor 1 NTRK1 G Neurotrophin 3 NTF3 or NT3 G Neurturin NRTN G Neutral endopeptidase E Neutrophil cystolic factor 1 NCF1 Neutrophil cystolic factor 2 NCF2 Niacinreceptor G Nibrin NBS1 G Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E <BR> <BR> Nodal NODAL G Noggin NOG G Norrie disease protein NDP G Notch 1 NOTCH1 G Notch 2 NOTCH2 G Notch 3 NOTCH3 G Notch ligand-jagged 1 JAG1, AGS G Nuclear factor I-kappa-B-like gene KBLj Nuclear factor kappa betaNFKB) Nuclear factor of activated T cells (NFAT) NFATC G complex, cytosolic Nuclear factor of activated T cells (NFAT) NFATP G complex, preexisting component Nuclear mitotic apparatus protein 1 NUMA1 G <BR> <BR> NudeophosminNPM1T<BR> <BR> <BR> <BR> <BR> Nudeosidediphosphatekinase-ANDPKAE<BR> <BR> <BR> <BR> OcutarafbinismiOA1S Oculocutaneous albinism 11 OCA2S <BR> <BR> Oligophrenin-1 OPHN1 G Oncogene abl1 ABL1 G Oncogene abl2 G Oncogene akt1 G Oncogene akt2 AKT2 G Oncogene axl AXL G Oncogene bcl2 G Oncogene bcr/abl G Oncogene B-lym G Oncogene B-raf G Oncogene clk1 G Oncogene c-myc G Oncogene cot G Oncogene crk G Oncogene crkl G Oncogene ect2 G Oncogene ELK1 ELK1 G Oncogene ELK2 ELK2 G Oncogene G Oncogene ERB G Oncogene ERB2 G Oncogene ERBA G Oncogene ERBAL2 G Oncogene ERG (early reponse gene) G Oncogene ETS1 G Oncogene G Oncogene EVI1 EVI1 G Oncogene fes G Oncogene fgr G Oncogene fos FOS G Oncogene fps G GLIGOncogeneGLI1 Oncogene GL12 GL12 G Oncogene GL13 GL13 G Oncogene gro1G Oncogene gro2 G Oncogene Ha-ras HRAS G Oncogene hs1G Oncogene hst FGF4 G Oncogene GWNT1 Oncogene int2 FGF3 G Oncogene int3 Notch4 G Oncogene int4 WNT3 G Oncogene jun JUN Oncogene KIT KIT, PBT G Oncogene LCO LCO G Oncogene G <BR> <BR> Oncogenelpsa G<BR> <BR> <BR> <BR> Oncogenelyn G Oncogene maf G Oncogene mas1 Oncogene mcf2 G Oncogene mdm2 MDM2 G Oncogene mel G Oncogene met MET G Oncogene mos G Oncogene mpl G Oncogene MUM1 MUM1 G Oncogene myb MYB G Oncogene myc MYC G Oncogene n-myc G Oncogene N-ras (neuroblastoma v-ras) NRAS G Oncogene G Oncogene G Oncogene pti-1 sea G Oncogene G Oncogene raf RAF G Oncogene G Oncogene rel G Oncogene ret RET G Oncogene r-myc G Oncogene G Oncogene G Oncogene sis PDGFB G Oncogene ski G Oncogene sno G Oncogene G Oncogene src G Oncogene G Oncogene TEL ETV6 G Oncogene tim G Oncogene vavtrk G <BR> <BR> Oncogene v-Ki-ras2 KRAS2 G Oncogene yes G Oncogene yuasa G <BR> <BR> Oncostatin M OSM G Oncostatin M receptor OSMR G GOrexinOX <BR> <BR> Orexin 1 receptor OX R G Orexin 2 receptor OX2R G OATEOrnithinedelta-aminotransferase Ornithine transcarbamoylase OTC, NME1 E Orthodenticle (Drosophila) homolog 1 OTX1 G Orthodenticle (Drosophila) homolog 2 OTX2 G Osteocaicin S Osteonectin ON G Osteopontin OPN G Osteoprotegerin OPG G Otoferlin OTOF N Oxytocin OXT N Oxytocinreceptor OXTR N <BR> <BR> p21-activated kinase 3 PAK3 G Paired box 1PAX1Ggene Paired box homeotic gene 2 PAX2 G Paired box homeotic gene 3 PAX3 G Paired box homeotic gene 6 PAX6 G Paired box homeotic gene 7 PAX7 G Paired box homeotic gene 8 PAX8 G <BR> <BR> Paired-like homeodomain transcription factor 2 PITX2 G Paired-like homeodomain transcription factor 3 PITX3 G Palmitoyl-proteinthioesterase PPT T Pancreatic amylase E Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G Parvalbumin PVALB G Patched (Drosophila) homolog, PTCH PTCH G PCNA (proliferating cell nuclear antigen) E Penut-like IPNUTL1 <BR> <BR> <BR> Pendrin, PDS PDS T Peptidylglycine alpha-amidating PAM E monooxygenase Peripherin, PRPH S Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6T Peroxisome biogenesis factor 7 PEX7T Peroxisome proliferative activated receptor, PPARAT alpha Peroxisome proliferative activated receptor, PPARGT gamma Peroxisome receptor 1 PXR1T Phenylethanolamine N-methyltransferase, PNMTE PNMT Phosphatase & tensin homolog PTEN G Phosphate regulating gene with homologies to PHEX G endopeptidases on the X chromosome Phosphatidylinositol glycan, class A PIGA G (paroxysmal nocturnal hemoglobinuria) Phosphatidylinositol transfer protein PITPN G Phosphodiesterase 1/nucleotide PDNP1 G pyrophosphatase 1 Phosphodiesterase 1/nucleotide PDNP2 G pyrophosphatase 2 Phosphodiesterase 1/nucleotide PDNP3 G pyrophosphatase 3 Phosphofructokinase, liver PFKL E Phosphofructokinase, muscle PFKM E Phosphoglucose isomerase GP)E Phosphoglycerate kinase 1 PGK1 E Phosphoglycerate mutase 2 PGAM2 E Phospholipase A2, group 10 PLA2G10 I Phospholipase A2, group 1 B PLA2G1 B Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I Phospholipase A2, group 6 PLA2G6 I Phosphoiipase C alpha Phospholipase C beta I Phospholipase C delta PLCD1 I Phosphofipase C epsilon Phospholipase C gamma PLCG1 I Phosphomannomutase 1 PMM1 G Phosphomannomutase 2 PMM2 G Phosphomannomutase-2 PMM2 T Phosphorylase kinase deficiency, liver PHKE Phosphorylase kinase, alpha 2 PHKA2E Phytanoyl-CoA hydroxylase PHYH G Plakophilin 1 PKP1T Plasminogen PLG E Plasminogen activator inhibitor 1 PAI1 E Plasminogen activator inhibitor 2PA)2E Plasminogen activator receptor, Urokinase UPAR; PLAUR s Plasminogen activator, Tissue PLAT; TPAE Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Plectin 1 PLEC1 T Poly (ADP-ribose) synthetase PARS E Poly (A) binding protein 2 PABP2 G <BR> <BR> Postsynaptic density-95 protein PSD95 N Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N Potassium voltage-gated channel Q4 KCNQ4 N POU domain, class 1, transcription factor 1POU1F1G (Pit1) POU domain, class 3, transcription factor 4 POU3F4 G POU domain, class 4, transcription factor 3 POU4F3 G Pre-B-cell leukemia transcription factor 1 PBX1 G Preproglucagon GCG; GLP1; GLP2 G Procollagen N-protease E Procollagen peptidase Profibrinolysin G Progesterone receptor (RU486 binding PGR G receptor) Prohibitin PHB G Prolactin PRL G Prolactin receptor PRLR G Prolactin releasing hormone PRH G Proliferin PLF G Proline dehydrogenase PRODH E Pro-melanin-concentrating hormone PMCH G Promyelocytic leukemia gene PML G Proopiomelanocortin POMC N <BR> <BR> Prophetof Pit1 PROP1 G Propionyl-CoA carboxylase, alpha PCCA E Propionyl-CoA carboxylase, beta PCCB E Prosaposin PSAP N Prostaglandin (PG) D synthase, hematopoietic PGDS E Prostaglandin isomerase G Prostaglandin-endoperoxidase synthase 2 PTGS2 G Prostate cancer anti-metastasis gene KAI1 KAI1 G Protease nexin 2 PN2 E Protective proteinforbeta-gaiactosidasePPGBE <BR> <BR> Protein C PROC I Protein kinase A E Protein kinase B PRKB Protein kinase C, a!phaPRKCAE Protein kinase C, gammaPRKCGE Protein kinase DNA-activatedPRKDCE Protein kinase G E Protein phosphatase 1, regulatory (inhibitor) PPP1R3E subunit 3 Protein phosphatase 2, regulatory subunit A, PPP2R1BE beta isoform Protein tyrosine phosphatase, non-receptor PTPN12 G type 12 Protoporphyrinogen oxidasePPOXE Pterin-4-alpha-carbinolamine PCBD Purine nucleoside phosphorytaseNPE Purinergic receptor P1A1 N Purinergic receptor P1A2 N Purinergic receptor P1A3 N Purinergic receptor P2X, 1 P2RX1 N Purinergic receptor P2X, 2 P2RX2 N Purinergic receptor P2X, 3 P2RX3 N Purinergic receptor P2X, 4 P2RX4 N Purinergic receptor P2X, 5 P2RX5 N Purinergicreceptor P2X, 6 P2RX6 N Purinergic receptor P2X, 7 P2RX7 N Purinergic receptorP2Y, 1 P2RY1 N Purinergic11P2RY11NP2Y, Purinergicreceptor P2Y, 2 P2RY2 N Pyrroline-5-carboxylatesynthetase PYCS E Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Pyruvate kinase PKLR E RAD51, DNA repair protein RAD51 G RAD52, DNA repair protein RAD52 G RAD54, DNA repair protein RAD54 G RAD55, DNA repair protein RAD55 G RAD57, DNA repair protein RAD57 G Ras-G-protein RAS G Rathke pouch homeobox, RPX RPX G Receptor tyrosine kinase (RTK), Nsk2 NSK2 G Recombination activating gene 1 RAG1 G Recombination activating gene 2 RAG2 G Red cone pigment RCP S Relaxin H 1 RLN 1 G Relaxin H2 RLN2 G Replication factor A Rep!icationfactorCRFC2E<BR> <BR> <BR> <BR> <BR> Retinal pigmentepitheliumspecificproteinRPE65S (65kD) Retinitis pigmentosa gene 1RP1s Retinitis pigmentosa gene 2 RP2 S Retinitis pigmentosa gene 3RP3s Retinitis pigmentosa gene 6 RP6 s Retinitis pigmentosa gene 7 RP7, RDS s Retinoblastoma 1 RB1 G Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G Retinoic acid receptor, gamma RARG G Retinoid X receptor, alpha RXRA G Retinoid X receptor, beta RXRB G Retinoid X receptor, gamma RXRG G Retinoschisis, X-linked, juvenile RS G Rhabdoid tumors SMARCB1 G <BR> <BR> <BR> Rhodopsin RHO S Ribonucleotide reductase, RRM E Ribosomal protein L13A RPL13A G Ribosomal protein L17 RPL17 G Ribosomal protein S19 RPS19 E Ribosomal protein S4, X-linked RPS4X E Ribosomal protein S6 kinase RPS6KA3 E Ribosomal protein S9 RPS9 G RIGUI RIGUI G Rod outer segment membrane protein 1 ROM1 S Ryanodine receptor 1, skeletal RYR1 G SA homolog SAH G Sal-like 1 SALL1 G Secretin SCT T Semaphorin A4 SEMA4 S Semaphorin A5 SEMA5 S Semaphorin D S Semaphorin E SEMAE S Semaphorin SSEMA3/F Semaphorin W SEMAW S Serine/threonine kinase GSTK11 Serine/threonine kinase 2 STK2 G Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, NHTR1F Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, HTR2B Serotonin receptor, 5HT2C HTR2CN Serotonin receptor, 5HT3 HTR3N Serotonin receptor, 5HT4 HTR4N Serotonin receptor, 5HT5 HTR5N Serotonin receptor, 5HT6 HTR6N Serotonin receptor, 5HT7 HTR7N Serum amyloid A SAA T Serum amyloid P SAP T Sex determining region Y, SRY SRY G Short stature homeobox SHOX G Sialoprotein, bone BSP G Signal transducer and activator of transcription STAT1 G 1 Signal transducer and activator of transcription STAT2 G 2 Signal transducer and activator of transcription STAT3 G 3 Signal transducer and activator of transcription STAT4 G 4 Signal transducer and activator of transcription STAT5 G 5 Signaling lymphocyte activation molecule SLAM I Sine oculis homeobox, drosophila, homolog 1 SIX1 G Sine ocuiis homeobox, drosophila, homolog 2 SIX2 G Sine oculis homeobox, drosophila, homoiog 5 SIX5 G Sjoegren (Sjogren) syndrome antigen A1 SSA1 I Slug protein G Small nuclear ribonucleoprotein polypeptide N SNRPN S Smoothelin SMTN G Smoothened (Drosophila) homolog SMOH G Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage gated, type IV, alpha SCN4A N polypeptide Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solute carrier family 1 (amino acid transporter), SLC1A6 T member 6 Solute carrier family 1 (glial high affinity SLC1A3 T glutamate transporter), member 3 Solutecarrierfamily1 (glutamatetransporter), SLC1A1 T member 1 Solute carrier family 1 (glutamate transporter), SLC1A2 T member 2 Solute carrier family 1 (neutral amino acid SLC1A4 T transporter), member 4 Solute carrier family 10 (sodium/bile acid SLC10A1 T cotransporter family), member 1 Solute carrier family 10 (sodium/bile acid SLC10A2 T cotransporter family), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 14, member 2 SLC14A2 T Solute carrier family 15 (H+/peptide SLC15A1 T transporter, intestinal), member 1 Solute carrier family 15 (H+/peptide SLC15A2 T transporter, kidney), member 2 Solute carrierfamily 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 17, member 1 SLC17A1 T Solute carrier family 17, member 2 SLC17A2 T Solute carrier family 18, member 3 SLC18A3 T Solute carrier family 19 (folate transporter), SLC19A1 T member 1 Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 2 (facilitated glucose SLC2A2 T transporter), member 2 Solute carrier family 2 (facilitated glucose SLC2A3 T transporter), member 3 Solute carrier family 2 (facilitated glucose SLC2A4 T transporter), member 4 Solute carrier family 2 (facilitated glucose SLC2A5 T transporter), member 5 Solute carrier family 20, member 1 SLC20A1 T Solute carrier family 20, member 2 SLC20A2 T Solute carrier family 20, member 3 SLC20A3 T Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21A3 T Solute carrier family 22, member 1 SLC22A1 T Solute carrier family 22, member 2 SLC22A2 T Solute carrier family 22, member 5 SLC22A5 T Solute carrier family 25, member 12 SLC25A12 T Solute carrier family 3 (facilitated glucose SLC3A1 T transporter), member 1 Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 6, member 10 SLC6A10 T Solute carrier family 6, member 6 SLC6A6 T Solute carrier family 6, member 8 SLC6A8 T Solute carrier family 7 (amino acid transporter), SLC7A1 T member 1 Solute carrier family 7 (amino acid transporter), SLC7A2 T member 2 Solute carrier family 7 (amino acid transporter), SLC7A7 T member 7 Solute carrier family 8 (sodium/calcium SLC8A1 T exchanger), member 1 Somatostatin receptor, SSTR2 SSTR2 G Somatotrophin G Sonic hedgehog, SHH SHH G Sorbitol dehydrogenase SORD E Sorcin SRI T SOS1 guanine nucleotide exchange factor SOS1 G Spastic paraplegia 7 SPG7 G Spectrin alpha SPTA1 S Spectrin beta SPTB S Sperm adhesion molecule SPAM1 G Sperm protamine P1 PRM1 G Sperm protamine P2 PRM2 G Sphingomyelinase SMPD1 E Spinocerebellar ataxia 8 gene SCA8 N Split hand/foot malformation gene DSS1 G SRY-box 10 SOX10 G SRY-box 11 SOX11 G SRY-box 3 SOX3 G SRY-box 4 SOX4 G SRY-box 9 SOX9 G Stem cell factor SCF G Steroid 5 alpha reductase 1SRD5A1E Steroid 5 a!phareductase2SRD5A2E Steroid hormone receptor responsive DNA G elements Steroid suiphataseSTSE Steroidogenic acute regulatory proteinSTART Stromal derived factor 1 SDF1 G <BR> <BR> SuccinatedehydrogenaselSDH1E Succinate dehydrogenase 2 SDH2 E Succinate thiokinase E Succinic semi-aldehyde dehydrogenasessadhE Sulfamidase SGSH G Sulfite oxidaseSUOXE Sulfonylurea receptor SUR G Suppression of tumorigenicity 3 gene ST3 G Suppression of tumorigenicity 8 gene ST8 G Surfactant pulmonary-associated protein A1SFTPA1T Surfactant pulmonary-associated protein A2 SFTPA2 T Surfactant pulmonary-associated protein B SFTPB T Surfactant pulmonary-associated protein C SFTPC T Surfactant pulmonary-associated protein D SFTPD T Surfeit 1 SURF1 G Survival of motor neuron 1, telomeric SMN1 T SYK-related tyrosine kinase SRK I <BR> <BR> Syndecan 1 SYND1 G Syndecan 2 SYND2 G Syndecan 3 SYND3 G Syndecan 4 SYND4 G Synovial sarcoma gene 1 SSX1 G Synovial sarcoma gene 2 SSX2 G <BR> <BR> Talin TLN G TATA binding protein TBP G TATA binding protein associated factor 2A TAF2A G TATA binding protein associated factor 2C2 TAF2C2 G TATA binding protein associated factor 2D TAF2E G TATA binding protein associated factor 2F TAF2F G TATA binding protein associated factor 2H TAF2H G TATA binding protein associated factor 21 TAF21 G TATA binding protein associated factor 2J TAF2J G TATA binding protein associated factor 2K TAF2K G Tau protein MAPT S T-BOX 1 TBX1 G T-BOX 2 TBX2 G T-BOX 3 TBX3 G T-BOX 4 TBX4 G T-BOX 5 TBX5 G T-BOX6 TBX6 G T-cell acute lymphocytic leukemia 1 TAL1 T-cell acute!ymphocyticteukemia2TAL2j<BR> <BR> <BR> <BR> <BR> T-cet!receptor,atphaTCRA) T-cell receptor, deitaTCRDt Telomerase protein componentE Tenascin (cytotactin) S Tenascin XATNXAs <BR> <BR> Termina!deoxynucteotidy!transferase,TDTE Testis-specific protein Y TSPY G Thiotase, perioxisomal E Thiopurine S-methyttransferaseTPMTE Thrombopoietin THPO G <BR> <BR> Thrombospondin THBS1 G<BR> <BR> <BR> <BR> <BR> Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 <BR> <BR> Thromboxane A2 receptor TBXA2R Thy-1 T-ce!)antigenTHY1j Thymidylate synthaseTYMSE Thymopoietin TMPO G Thyroglobulin TG G Thyroid hormone receptor, alpha THRA G Thyroid hormone receptor, beta THRB G Thyroid peroxidase TPO G Thyroid receptor auxiliary protein TRAP G Thyroid-stimulating hormone receptor TSHR G Thyroid-stimulating hormone, alpha TSHA G Thyroid-stimulating hormone, beta TSHB G Thyrotroph embryonic factor TEF G Thyrotropin releasing hormone TRH G Thyrotropin releasing hormone receptor TRHR G Thyroxin-binding globulin TBG T TIE receptor tyrosine kinase TIE-1 G Tip-associated protein TAP I Tissue inhibitor of metalloproteinase 1, TIMP1 TIMP1 E Tissue inhibitor of metalloproteinase 2, TIMP2 TIMP2 E Tissue inhibitor of metalloproteinase 3, TIMP3 TIMP3 E Tissue inhibitor of metalloproteinase 4, TIMP4 TIMP4 E Tissue non-specific alkaline phosphataseE TNSAP <BR> <BR> <BR> Titin TTN S Tocopherol (alpha) transfer protein TTPA T Toll-like receptor 4 TLR4 I <BR> <BR> Topoisomerase)E Topoisomerase E Torticollis, keloids, cryptorchidism and renal TKCR G dysplasia gene <BR> <BR> TransacyiaseE<BR> <BR> <BR> <BR> <BR> Transcoba)amin1,TCN1T Transcobalamin 2, TCN2 TCN2 T Transcription factor 1, hepatic TCF1 G Transcription factor2, hepatic TCF2 G Transcription factor 3 TCF3 G Transcription factor binding to IGHM enhancer TFE3 G 3 Transcription factor, TUPLE1 TUPLE1 N Transcription termination factor, RNA TTF1 G polymerase 1 Transcription termination factor, RNA TTF2 G poiymerase 2 Transcription termination factor, RNA TTF3 G polymerase 3 Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, alpha TGFA G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Transglutaminase 1 TGM1 G Transglutaminase 2 TGM2 G Transglutaminase 4 TGM4 G Transketolase TKT E Transketolase-like 1 TKTL1 E Translocation in renal carcinoma on TRC8 G chromosome 8 gene Transthyretin TTR T Treacle gene TCOF1 G Triosephosphate isomerase TP11 E Tropomyosin 1 alpha TPM1 S Tropomyosin 3 (non-muscle) TPM3 S Troponin C S Troponin I TNN13 S Troponin T2, cardiac TNNT2 S Trypsin inhibitor E Trypsinogen 1 TRY1 E Trypsinogen 2 TRY2 E Tryptophan hydroxylase TPH E Tubby-like protein 1 TULP1 G Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tubulin S Tumor susceptibility gene 101 TSG101 G <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF1 i associated factor 1 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF2 ! associated factor 2 <BR> <BR> <BR> Tumour necrosis factor (TNF) receptor TRAF3 ! associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 Tumour necrosis factor aiphaTNFA Tumour necrosis factor alpha receptor! Tumour necrosis factor beta! Tumour necrosis factor beta receptor TNFBR Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G <BR> <BR> Tumour protein p73 TP73 G<BR> <BR> <BR> <BR> <BR> Tumourprotein, translationally-controlled 1 TPT1 G Tumour suppresssor gene DRA DRA I Twist (Drosophila) homolog TWIST G Tyrosinase TYR E Tyrosinase-related protein 1 TYRP1 E Tyrosine aminotransferase TAT E Tyrosine hydroxylase TH E Ubiquitin G Ubiquitin activating enzyme, E1 E Ubiquitin B UBB G Ubiquitin C UBC G Ubiquitin carboxyl-terminal esterase L1 UCHL1 G Ubiquitin fusion degeneration 1-like UFD1L G Ubiquitin protein ligase E3A UBE3A E UDP-glucose pyrophosphorylase E <BR> <BR> UDP-glucuronosyltransferase 1 ugt1d, UGT1 E UDP-glucuronosyitransferase 2 UGT2 E Uncoupling protein 1 T Uncoupling protein 3 UCP3 T Undulin 1 COL14A1 S Uridine monophosphate kinase UMPK I Uridine monophosphate synthetase UMPS I <BR> <BR> Uridinediphosphate (UDP)-galactose-4-GALE E epimerase Uroporphyrinogen decarboxylase UROD E Uroporphyrinogen III synthase UROS E Usher syndrome 2A USH2A S Vascular endothelial growth factor VEGF G Vasoinhibitory peptide G Vitamin B12-binding (R) protein G Vitamin D receptor VDR G Vitelliform macular dystrophy, atypical gene VMD1 T v-myc avian myelocytomatosis viral oncogene MYC G homolog Von Hippel-Lindau gene VHL G Werner syndrome helicase WRN G Wilms tumour gene 1 WT1 G Wilms tumour gene 2 WT2 G Wilms tumour gene 4 WT4 G Winged helix nude WHN G Wingless family, wnt2 WNT2 G Wingless family, wnt4 WNT4 G Wingless family, wnt5 WNT5 G Wingiessfamily, wnt7 WNT7 G Wingless family, wnt8 WNT8 G <BR> <BR> Wiskott-Aldrich syndrome protein WASP, THC I Wnt inhibitory factor, WIF-1 WIF1 G Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Wolfram syndrome 1 gene WFS1 S X (inactive)-specific transcript XIST G Xanthine dehydrogenase XDH E Xeroderma pigmentosum, complementation XPA E group A Xeroderma pigmentosum, complementation XPB E group B Xeroderma pigmentosum, complementation XPC E group C Xeroderma pigmentosum, complementation E group D Xeroderma pigmentosum, complementation E group E Xeroderma pigmentosum, complementation XPF E group F Xeroderma pigmentosum, complementation ERCC5 E group G X-ray repair gene XRCC9 G Xylitol dehydrogenase E YY1 transcription factor YY1 G Zinc finger protein 198 ZIC198 S Zinc finger protein 2 ZIC2 S Zinc finger protein 3 ZIC3 S <BR> <BR> Zinc finger protein HRX ALL1 I Zona pellucida glycoprotein 1 ZP1 G Zona pellucida glycoprotein 2 ZP2 G Zona pellucida glycoprotein 3 ZP3 G Zona pellucida receptor tyrosine kinase ZRK G Zonadhesin ZAN G In a thirteenth aspect.

SKIN, MUSCLE, CONNECTE TISSUE AND BONE.

The present invention relates to a method of assessing the risk of developing clinical or social consequences following dysfunction, damage or disease of the skin. muscle, connective tissue or bone and indicating appropriate therapeutic interventions.

The skin, muscle, connective tissue and bone constitute the scaffolding of the body, their structural properties enable the body to maintain its shape, allow articulation and movement of limbs and act as anchor points for the location and attachement of other organs.

The skin forms the initial defensive barrier between the body and the external environment. It consists of the epidermis (containing the sweat and apocrine glandsand dermis lying on a layer of fat. Within these layers lie a series of specialised cells such as dendritic cells, Langehans cells and intermediate cells. The skin is also richly supplied with nerves and blood vessels. Together these tissues enable the skin to present a supple but sensitive barrier between the external environment and the body. The skin is exposed to pathogens and injury at all times and as such it has impressive defensive, repair and regenerative capacities. In order to facilitate these functions the skin cells'turn over'in about 30 days, thus ensuring a continuous process of renewal and the maintenance of an efficient barrier. The skin is also responsible for the detection of environmental stimuli such as heat, cold, pressure and antigen detection. The skin can also manifest the body's responses to such stimuli by enabling heat loss through vasodilation or resistance to infection by focal inflammatory responses. In humans the skin plays an important part in sexual attraction and this has very significant implications for the extent and nature of disabilities experienced or percieved following dysfunction, damage or disease.

The most common forms of skin diseases are; acne, warts, tumours, dermatitis. psoriasis, leg ulcers and infections (bacterial, viral and fungal). There are also a host of rarer genetic or metabolic disorders including: epidermolysis bullosa, neurofibromatosis, ichthyosis vulgaris, Down's syndrome, atopic eczema, acne vulgaris, alopecia areata, Werners syndrome etc. (Weatherall, Leadingham and Warrell 1996).

One particular aspect of the presence of diseases of the skin is the social stigma and isolation which arise as a consequence of them. Although seldom life threatening, the disability and decline in quality of life experienced by the patient is often out of all proportion to the clinical severity of the condition.

Muscle tissues supply the physical power to move the limbs of the body and to enable more discrete processes such as peristalsis, breathing and ejaculation. Muscle is made up of muscle fibres (multinucleate cells containing myofibrils, sarcoplasm, mitochondria. ribosomes and the sarcotubular system). Each fibre his enclosed in a sarcolemmal sheath and has a motor endplate where nerve fibres terminate. The muscle fibres work in groups to ensure a co-ordinated application of force.

Pain, muscular weakness and fatiguability are the most important symptoms of dysfunction, damage and disease of the muscle. In order to arrive at a specific diagnosis of a disease or syndrome the distribution, nature and dynamics of the muscular symptoms must be carefully assessed (e. g. genetic causes of muscular disease tend to have an insidious progression of muscle weakness, whereas inflammatory causes occur more rapidly).

Diseases of muscle include genetic causes (the dystrophies, myotonias), hypotonias of uncertain cause, inflammatory myopathies, disorders of neuro-muscular transmission (e. g. myasthenia gravis. Lambert-Eaton myasthenic syndrome) and mitochondrial, metabolic or endocrine related myopathies.

In addition muscular symptoms can often occur as a presenting symptom in neurological diseases such as multiple sclerosis, motor neurone disease and Parkinson's disease. Adverse reactions to drug therapies can also result in the symptoms of muscle disease (e. g. antibiotics, procainamide, D-penicilamine).

Connective tissues form the thin membranes of tissue which encompass and link the various organs and tissues of the body together, They form support structure for the organs and the vascular, nervous and lymphatic vessels and fibres which run between them. Connective tissues consist largely of collagen, laminins and fibronectins.

Diseases of connective tissue form a diverse group of syndromes many of which are of unknown etiology e. g. systemic lupus erythematosus, scleroderma, vasculitidies and Sjogren's syndrome). These diseases have a common trand of pathology in that they all involve aberrant activation or regulation of the immune system. Several can be prcipitated or excaberated by certain drugs or exposure to environmental toxins.

The symptoms diffuse and often involve several systems (e. g. arthralgias, myalgias, skin rashes, hair loss, breathlesness etc.) Diagnosis can be difficult particularly in the more diffuse presentations, the presence of antinuclear antibodies is often helpful in confirming a diagnosis. These conditions are thought to be triggered, in the main, by responses to external environmental factors.

Rheumatology concerns the pathological process which affect joints and periarticular tissues. It involves diseases of the musculo-skeletal system such as genetic abnormalities of specific component tissues, abnormalities of the immune system, acute and chronic inflammatory responses and the turnover and regulation of connective tissues (e. g. bone, cartilage). The World Health Organisation classifies rheumatic disorders into four main categories: Back pain Periarticular disorders Osteoarthritis and related disorders Inflammatory arthropathies (e. g. rheumatoid arthritis, ankylosing spondylitis) Rheumatic disorders are very common and the experience of pain in muscles or joints is one of the commonest reasons for consulting a doctor. Since joint or muscle pain is a feature of physical exertion and exercise it is sometimes difficult to draw the boundary between'normal'and'pathological'joint and muscle pain. Given the frequency of this type of complaint the economic consequences of such disorders are immense and they are calculated to be responsible for 30% of the burden of disability in the population (rising to over 60% in the ageing population).

Rheumatic disorders present with a variety of symptoms both articular (e. g. pain, stiffness, swelling and loss of function in joints) and extra-articular (e. g. scleritis, systemic sclerosis, xerostomia, psoriasis, ulcerative colitis, urethritis, peripheral neuropathies). A careful clinical examination is required to determine the range of symptoms present and thus the exact diagnosis (e. g. whether arthritis is due to a bacterial infection).

Bone is one of two tissues in the body (teeth are the other) which is mineralised in order to carry out its normal functions, to act as a rigid framework for muscle and organ attachement and to act as a mineral store. Bone tissue consists of cells and an extracellular mineralised matrix. Three types of cells are present, osteoblasts, osteoclasts and osteocytes. All three types are involved in the complex processes of bone formation and resorption. In addition these cells have close contacts with bone marrow and thus the immune system. Bone metabolism is affected by factors such as mechanical stress, hormones and inflammatory mediators such as cytokines. The process of bone re-modelling continues throughout life and as such will be affected by concurrent illness or hormonal changes during ageing (e. g. osteoporosis is a common problem in post-menopausal women).

In addition to the damage caused by fractures, infections and tumours bone has a number of other pathologies including Weatherall, Leadingham and Warrell 1996): Aberrations of bone formation or resorption (osteoporosis, osteomalacia, Paget's disease) Defects in the main molecular components of bone formation (Marfan's syndrome, osteogenesis imperfecta) Disorders of the enzymes of bone metabolism (homocystinuria, hypophosphatasia) Skeletal chondroplasias Abberant biology of bone cells (osteopetrosis, ectopic ossification, fibrous dysplasia) Toxic effects due to excess minerals, vitamins or metallic poisons.

The main consequences of these disorders involve, unsightly lesions, sores, ulcerations, infections, musculoskeletal pain, stiffness, reduced mobility, dysfunction of specific organs, physical disability and enhanced susceptibility to fractures. These physical features will impact on an individuals quality of life and as such the disorder is often complicated by complex interactions with an individuals social circumstances and psychology (Weatherall, Leadingham and Warrell 1996).

The physiology and structure of skin, muscle, connective tissue and bone is extremely complex and involves the initiation of repair and regenerative mechanisms and the body's response to changes in the environment (e. g. changes in physical activity leading to increased muscle mass and bone density or muscular changes in pregnancy). The co-ordination of a changing pattern of behaviour or environmental stressor with musculoskeletal changes or the initiation of wound closure and healing following trauma involve synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from dysfunction, damage or disease of the skin, muscle, connective tissue or bone including genetic history, age, sex, nutritional status, pre-existing disease or injury, drug treatments and socio-economic circumstances.

Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to the occurrence of skin, muscle, connective tissue and bone pathology and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of dysfunction, damage or disease of the skin, muscle, connective tissue or bone.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below : KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION SKIN, BONE, MUSCLE GENE LIST HUGO symbol Protein function 17beta hydroxysteroid oxidoreductase E 5,10-methylenetetrahydrofolate reductase MTHFR E (NADPH) 6-phosphofructo-2-kinase PFKFB1 E Acetoacetyl 2-CoA-thiolase ACAT2 E Acetylcholine receptor, nicotinic, alpha A1 CHRNA1 N Acetylcholine receptor, nicotinic, alpha A2 CHRNA2 N Acetylcholine receptor, nicotinic, alpha A3 CHRNA3 N Acetylcholine receptor, nicotinic, alpha A4 CHRNA4 N Acetylcholine receptor, nicotinic, alpha A5 CHRNA5 N Acetylcholine receptor, nicotinic, alpha A6 CHRNA6 N Acetylcholine receptor, nicotinic, alpha A7 CHRNA7 N Acetylcholine receptor, nicotinic, beta 1 CHRNB1 N Acetylcholine receptor, nicotinic, beta 2 CHRNB2 N Acetyicholine receptor, nicotinic, beta 3CHRNB3N Acetylcholine receptor, nicotinic, beta 4 CHRNB4 N Acetylcholine receptor, nicotinic, epsilon CHRNE N Acetylcholine receptor, nicotinic, gamma CHRNG N <BR> <BR> AcetyichoiinesteraseACHEE<BR> <BR> <BR> <BR> Achromatopsia 2ACHM2s Acid phosphatase 2, iysosomaiACP2E Actin, alpha, cardiac ACTC s Actin, alpha, skeletal ACTA1 g Actin, alpha, smooth, aortic ACTA2 S Actin, beta ACTB S Actin, gamma 2 ACTG2 S Activin G Acyl CoA dehydrogenase, short chain ACADS E Acyl-CoA thioesterase E Adaptin, beta 3A ADTB3A T Adducin, alpha ADD1 S Adducin, beta ADD2 S Adenosine deaminase ADA E Adenosine monophosphate deaminase AMPD E Adenosine receptor A1 ADORA1 N Adenosine receptor A2A ADORA2A N Adenosine receptor A2B ADORA2B N Adenosine receptor A3 ADORA3 N Adenyl cyclase N Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adenylate kinase AK1 E <BR> <BR> Adenylosuccinate lyase ADSL E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenocorticotrophic hormone (ACTH) ACTHR G receptor Adrenoleukodystrophy gene ALD E Alanine aminotransferase T Alanine-glyoxylate aminotransferase AGXT E Albumin, ALB ALB T Alcohol dehydrogenase 1 ADH1 E Alcohoi dehydrogenase 2 ADH2 E Alcohol dehydrogenase 3 ADH3 E Alcohol dehydrogenase 4ADH4E <BR> <BR> Alcohol dehydrogenase 5 ADH5 E Alcohol dehydrogenase6ADH6E Alcohol dehydrogenase 7ADH7E Aldehyde dehydrogenase 1ALDH1E Aldehyde dehydrogenase 10 ALDH10 E Aldehyde dehydrogenase 2ALDH2E Aldehyde dehydrogenase 5 ALDH5 E Aldehyde dehydrogenase 6 ALDH6 E Aldehyde dehydrogenase 7 ALDH7 E Aldolase A ALDOA E Aldolase B ALDOB E <BR> <BR> Aldolase C ALDOC E Aldosterone receptor MLR G Alkaline phosphatase, liver/bone/kidney ALPL T Alkaptonuria gene AKU G Alkylglycerone phosphate synthase AGPS E <BR> <BR> aiphatectorin TECTA G<BR> <BR> <BR> <BR> <BR> alpha thalassemia gene ATRX N<BR> <BR> <BR> <BR> alpha 1-antichymotrypsin AACT E<BR> <BR> <BR> <BR> <BR> aipha1-antitrypsin Pl E alpha2-antiplasmin PLI E alpha-actinin 2 ACTN2 G ACTN3Galpha-actinin3 alpha-Galactosidase A GLA E Alpha-galactosidase B, GALB NAGA E alpha-synuclein SNCA N <BR> <BR> Amelogenin AMELX S Aminopeptidase P XPNPEP2 E Amphiregulin AREG G Amylo-1,6-glucosidase AGL E Amyloid beta A4 precursor protein APP N Amyloid beta A4 precursor-like protein APLP N Androgen binding protein ABP T Androgen receptor AR G Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensinogen AGT E Antidiuretic hormone receptor ADHR T Anti-Mullerian hormone AMH G Apolipoprotein A 4 APOA4 T <BR> <BR> ApolipoproteinA I APOA1 T Apolipoprotein A II APOA2 T Apolipoprotein B APOB T Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apolipoprotein H APOH T Argininevasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N <BR> <BR> Arrestin SAG S Aryl hydrocarbon receptor nuclear ARNT T translocator <BR> <BR> <BR> Arylsulfatase A ARSA E Arylsulfatase B ARSB E Arylsulfatase C ARSC1 E Arylsulfatase D ARSD E Arylsulfatase E ARSE E Arylsulfatase F ARSF E Aspartate receptor N Aspartoacylase ASPA E Aspartylglucosaminidase AGA E Ataxia telangiectasia complementation group ATD, ATDC G D Ataxia telangiectasia gene, AT ATM G ATP cobalamin adenoxyltransferase E ATP sulphurylase atpsk2 E ATP/ADP translocase E Attraction Autoimmune regulator, AIRE AIRE I BCL2-related protein A1 BCL2A1 G Benzodiazepine receptor N Bestrophin VMD2 T beta 2 microglobulin B2M I beta-endorphin receptor N <BR> <BR> beta-galactosidase GLB1 E beta-Glucuronidase GUSB E beta-synuclein SNCB N BilirubinUDP-glucuronosyltransferase E Bloom syndrome protein BLM G Blue cone pigment BCP S Bone morphogenetic protein, BMP1 BMP1 G Bone morphogenetic protein, BMP2 BMP2 G Bone morphogenetic protein, BMP3 BMP3 G Bone morphogenetic protein, BMP4 BMP4 G Bone morphogenetic protein, BMP5 BMP5 G Bone morphogenetic protein, BMP6 BMP6 G Bone morphogenetic protein, BMP7 BMP7 G Bone morphogenetic protein, BMP8 BMP8 G Bradykinin receptor I Bradykinin receptor I Branched chain aminotransferase 1, cytosolic BCAT1 E Branched chain aminotransferase 2, BCAT2 E mitochondrial <BR> <BR> <BR> Breast cancer, ductal, 1 BRCD1 G<BR> <BR> <BR> <BR> <BR> <BR> Breast cancer, ductal, 2 BRCD2 G<BR> <BR> <BR> <BR> <BR> ButyrytchotinesteraseBCHEE Ca (2+) transporting ATPase, fast twitch ATP2A1 T Ca (2+) transporting ATPase, slow twitch ATP2A2 T Cadherin E CDH1 G Cadherin EP G Cadherin N CDH2 G Cadherin P CDH3 G Calbindin 1 CALB1 G Calbindin D9K CALB3 G Calcitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1 S subunit Calcium channel, voltage-dependent, P/Q CACNA1A N type, alpha 1A subunit Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calnexin CANX G Calpain CAPN, CAPN3 E Cannabinoid NCNR1 Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Carnitine acetyltransferase CRAT E Carnitine CACTEtranslocase Carnitine palmitoyltransferase I CPT1 A E Carnitine palmitoyltransferase 11 CPT2 E <BR> <BR> Carnitine transporter protein CDSP, SCD T Cartilage oligomeric matrix protein COMP, EDM1, N PSACH Cartilage-hair hypoplasia gene CHH N Catenin, beta CTNNB1 G Cathepsin K CTSK E Caveolin 3 CAV3 E <BR> <BR> <BR> CD1 CD1<BR> <BR> <BR> <BR> <BR> CD4 CD4 Ceroid lipofuscinosis neuronal 3 CLN3 N Ceruiop!asminprecursorCPE Chemokine MCAF MCAF I 1,skeletalmuscleCLCN1SChloridechannel <BR> <BR> ChotecystokininCCKN Cholecystokinin B receptorCCKBRN Cholesterol ester hydroxyiaseE <BR> <BR> Chofineacety!transferaseCHATE<BR> <BR> <BR> <BR> <BR> ChoroideremiageneCHMs Citrate synthase E <BR> <BR> CtathrinT geneCPXGCleftpalate Cockayne syndrome gene, CKN1 CKN1 G Coenzyme Q (CoQ)/ubiquinoneE Collage I alpha 1 COL1A1 S Collage I alpha 2 COL1A2 S <BR> <BR> Collagen II alpha 1 COL2A1 S Collage III alpha 1 COL3A1 S <BR> <BR> Collagen IV alpha 1 COL4A1 S Collagen IV alpha 2 COL4A2 S alpha3COL4A3SCollagenIV Collagen 4COL4A4Salpha Collage IV alpha 5 COL4A5 S Collagen 6COL4A6Salpha Collage IX alpha 2 COL9A2, EDM2 S Collagen 3COL9A3Salpha Collagen SCOLR Collage V alpha 1 COL5A1 S Collage V alpha 2 COL5A2 S Collage VI alpha 1 COL6A1 S <BR> <BR> Collagen VI alpha 2 COL6A2 S<BR> <BR> <BR> <BR> <BR> Collagen VI alpha 3 COL6A3 S alpha1COL7A1SCollagenVII <BR> <BR> Collagen X alpha 1 COL10A1 S<BR> <BR> <BR> <BR> <BR> Collagen X alpha 1 COL11A1 S<BR> <BR> <BR> <BR> <BR> Collagen XI alpha 2 COL11A2 S Collagen 1COL17A1Salpha Collagenic-like tail subunit of asymmetric COLQ E acetylcholinesterase Collapsin G 1CSF1GColony-stimulatingfactor <BR> <BR> Colony-stimulating factor 1 receptor CSF1 R G Colony-stimulating factor 2 CSF2 G Colony-stimulating factor 2 alpha receptor CSF2RA G Colony-stimulating factor 2 beta receptor CSF2RB G Colony-stimulating factor 3 CSF3 G 3receptorCSF3RGColony-stimulatingfactor C1inhibitorC1NHIComplementcomponent Complement component C1qa C1QA Complement component C1qb C1QB I Complement component C1qg C1QG Complement component C1 r C1R I Complement component C1s C1S Complement component C2 C2 Complement component C3 C3 <BR> <BR> ComptementcomponentC4AC4A Complement componentC4BC4B Complement component C5C5 Complement component C6 C6 Complement component C7 C7 Complement component C8 C8B Complement component C9 C9 Complement component receptor 1 CR1 Complement component receptor 2 CR2 <BR> <BR> Complement component receptor 3 CR3 Complex E Complex E Complex III E Complex l l l E Complex V MTATP6 E Cone-rod homeobox-containing gene CRX G Coproporphyrinogen oxidase CPO E Core-binding factor, alpha 1 CBFA1 G Core-binding factor, alpha 2 CBFA2 G Core-binding factor, beta CBFB G Corticosteroid binding globulin CBG N Cortico-steroid binding protein T Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T Cortisol receptor I C-reactive protein CRP I Creatine kinase-B and m CKBE E Creb binding protein CREBBP G Crystallin, alpha A CRYAA S Crystallin, alpha B CRYAB S Crystallin, beta B2 CRYBB2 S Crystallin, gamma A CRYGA S c-src tyrosine kinase CSK G Cu2+ transporting ATPase alpha polypeptide ATP7A E Cu2+ transporting ATPase beta polypeptide ATP7B E Cyclic AMP response element binding protein CREB G Cyclic AMP-dependent protein kinase PKA E Cyclic 1BPDE1BEphosphodiesterase Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cystic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4APDE4AE Cyclic nucleotide phosphodiesterase 4CPDE4CE Cyclic nucleotide phosphodiesterase 5APDE5AE Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6BPDE6BE Cyclic nucleotide phosphodiesterase 7PDE7E Cyclic nucleotide phosphodiesterase 8PDE8E Cyclic nucleotide phosphodiesterase 9APDE9AE <BR> <BR> Cyclin-dependent kinase 2 CDK2 G Cyclin-dependent kinase inhibitor 1C (P57, CDKN1C G KIP2) Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G Cyclooxygenase ECOX1 Cyclooxygenase 2COX2E ECYP11A1CYP11A1 CYP11B1CYP11B1E ECYP11B2CYP11B2 ECYP17CYP17 ECYP19CYP19 ECYP1A1CYP1A1 ECYP1A2CYP1A2 ECYP1B1CYP1B1 CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 <BR> <BR> CYP4B1 CYP4B1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E CYP51CYP51E<BR> <BR> <BR> <BR> <BR> CYP5A1CYP5A1E<BR> <BR> <BR> <BR> <BR> CYP7ACYP7AE<BR> <BR> <BR> <BR> CYP8CYP8E<BR> <BR> <BR> <BR> <BR> CystathionaseCTHE Cystathione betasynthaseCBSE Cystic fibrosis transmembrane conductanceCFTRN regulator, CFTR <BR> <BR> CystinosinCTNST Cytidine deaminaseCDAE <BR> <BR> Cytidine-5-prime-triphosphatesynthetaseCTPSE Cytochrome a E Cytochrome b-245 aiphaCYBAE Cytochrome b-245 betaCYBBE Cytochrome b-5 CYB5 E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 binding protein 2 DAX1 nuclear receptor DAX1 Deafness dystonia peptide DDP N Delta 4-5 alpha-reductase E Delta aminolevulinate dehydratase ALAD E Delta (4)-3-oxosteroid 5-beta-reductase E <BR> <BR> Delta-7-dehydrocholesterol reductase DHCR7 E Dentin sialophosphoprotein DSPP G <BR> <BR> Desmin DES S DHEAsulfotransferase STD E Diastrophic dysplasia sulfate transporter DTD T Dihydrolipoamide dehydrogenase DLD N <BR> <BR> Dihydroxyacetonephosphateacyltransferase DHAPAT E DNA damage binding protein, DDB1 DDB1 S DNA damage binding protein, DDB2 DDB2 S DNAmethyltransferase DNMT E DNA-damage-inducible transcript 3 DDIT3 S Dopamine receptors D1DRD1N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Dynamin DNM1 G Dynorphin receptor N <BR> <BR> Dyskerin DKC1 S Dystonia 1 DYT1 S <BR> <BR> Dystonia 3 DYT3 S<BR> <BR> <BR> Dystonia SDYT6 Dystonia7DYT7s Dystrophia myotonica DM, DMPKE Dystrophia myotonica, atypica!DM2E <BR> <BR> Dystrophin DMD S Dystrophin-associated glycoprotein 35kD, SGCD S SCGD Dystrophin-associated glycoprotein 35kD, SGCG s SGSG Dystrophin-associated glycoprotein 43kD SGCB S Dystrophin-associated glycoprotein 50kDSGCAs Ectodermal Dysplasia 1 geneED1S Elastase astase1ELAS1E <BR> <BR> Elastase 2 ELAS2 E<BR> <BR> <BR> <BR> <BR> Elastin ELN S<BR> <BR> <BR> <BR> <BR> <BR> E!ectron-transfering-f)avoproteinaiphaETFAT<BR> <BR> <BR> <BR> <BR> Etectron-transfering-fiavoproteinbetaETFBT Electron-transferring flavoprotein ETFDH E dehydrogenase Emerin EMD T Endocardial fibroelastosis 2 gene EFE2 S Endometrial bleeding-associated factor EBAF G Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N Engrailed-1 EN1 G Engrailed-2 EN2 G <BR> <BR> Enolase EN01 E Enoyi CoA hydratas Enoyl CoA isomerase E Enoyl CoA reductase E Enterokinase PRSS7, ENTK E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Erythrocyte membrane protein band 4.1 EPB41 S <BR> <BR> Erythropoietin EPO Erythropoietin receptor EPOR Estrogen receptor ESR G <BR> <BR> Exostosin 1 EXT1 S<BR> <BR> <BR> <BR> <BR> Exostosin 2 EXT2 S<BR> <BR> <BR> <BR> <BR> <BR> Exostosin3EXT3S Eye colour gene 3 (brown) EYCL3S Eyes absent 1 EYA1 G Faciogenital dysplasia FGD1, FGDY T Factor 1 (No. one) F1 Factor B, properdin Factor D Factor H HF1 <BR> <BR> <BR> Factor X F10 Fanconi anemia, complementation group A FANCA T Fanconi anemia, complementation group C FANCC T Fanconi anemia, complementation group D FANCD T Fc fragment of IgG, high affinity IA, receptor FCGR1A G for Fc fragment of IgG, low affinity Ila, receptor FCGR2A G for (CD32) Ferritin, H subunit T Ferritin, L subunit FTL T Fibrillin 1 FBN1 G Fibrillin 2 FBN2 G Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen gamma FGG S Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Fibronectin precursor FN1 G Flightless-II, Drosophila homolog of FLII G <BR> <BR> Folic acid receptor FOLR G Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Forkhead transcription factor 10 FKHL10 G Forkhead transcription factor 14 FKHL14 G Forkhead transcription factor 7 FKHL7 G Fragile site, folic acid type, rare, fra (X) A FRAXA N Frataxin FRDA G Fringe secreted protein, lunatic LFNG G Fringe secreted protein, manic MFNG G Fringe secreted protein, radical RFNG G Fructose-1,6-diphosphatase FBP1 E Fucosidase alpha-L-1 FUCA1 E Fucosidase alpha-L-2 E Fukuyama type congenital muscular FCMD G dystrophy Fumarase FH E GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N Galactocerebrosidase!actocerebrosidaseGALCE <BR> <BR> GatactokinaseGALK1E<BR> <BR> <BR> <BR> <BR> Gatactoset-phosphateuridyt-transferaseGALTE Gamma-giutamyl carboxylase GGCX T Gap junction protein alpha 3 GJA3 T Gap junction protein aipha 8 GJA8 T Gap junction protein beta 3 GJB3 T Gastrointestinal tumor-associated antigen 1 GA733 I Gastrulation brain homeobox 2 GBX2 G Glucosidase, acid alpha GAA E Glucosidase, acid beta GBA E Glutamate receptor 1 GLUR1 N Glutamate receptor 2 GLUR2 N Glutamate receptor 3 GLUR3 N Glutamate receptor 4 GLUR4 N Glutamate receptor 5 GLUR5 N Glutamate receptor 6 GLUR6 N Glutamate receptor 7 GLUR7 N Glutamate receptor, ionotropic, NMDA 1 NMDAR1 N Glutamate receptor, ionotropic, NMDA 2A NMDAR2A N Glutamate receptor, ionotropic, NMDA 2B NMDAR2B N Glutamate receptor, ionotropic, NMDA 2C NMDAR2C N Glutamate receptor, ionotropic, NMDA 2D NMDAR2D N Glutathione GSH T Glutathione peroxidase, GPX1 GPX1 E <BR> <BR> Glutathione S-transferase, GSTZ1 GSTZ1 E<BR> <BR> <BR> <BR> <BR> Glyceraldehyde-3-phosphate GAPDH E dehydrogenase, GAPDH Glycerolkinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine receptor, alpha GLRA2 N Glycine receptor, beta N Glycinetransporter GLYT N Glycogen phosphorylase PYGL E Glycosyltransferases, ABO blood group ABO E GM2 ganglioside activator protein, GM2A GM2A E Green cone pigment GCP S Growth arrest-specific homeobox GAX G Growth factor receptor-bound protein 2 GRB2 G Growth hormone 1 GH1 G Growth hormone 2 (placental) GH2 G Growth hormone receptor GHR G Growth hormone releasing hormone (GHRH) GHRH G Growth hormone releasing hormone receptor GHRHR G Growth/differentiation factor 5 GDF5 G GTP cyicohydrolase 1 GCH1 G GTPase-activating protein, GAP RASA1 G Guanidinoacetate N-methyltransferase GAMTE Guanine nucleotide-binding protein, alpha GNA01N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAi1N inhibiting activity polypeptide 1, GNAI1 Guanine nucleotide-binding protein, alpha GNA12 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNA13 N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanyiate cyclase 2D, membrane (retina-GUCY2D E specific) Guanyiate cyclase activator 1A (retina) GUCA1A E H (+), K (+)-ATPase ATP4B N Haeme regulated inhibitor kinase E Haemoglobin alpha 1 HBA1 T Haemoglobin alpha 2 HBA2 T Haemoglobin beta HBB T Haemoglobin delta HBD T Haemoglobin gamma A HBG1 T Haemoglobin gamma B HBG2 T Haemoglobin gamma G HBGG T Hairless HR G Heat shock protein, HSP60 I Heat shock protein, HSP70 I Heat shock protein, HSP90 I Heat shock protein, HSPA1 ! <BR> <BR> Heat shock protein, HSPA2 ! Heparan sulfamidase E Heparin binding epidermal growth factor HBEGF G Heparin Cofactor II HCF2 I Hepatocyte growth factor HGF G Hermansky-pudlak syndrome gene HPS T Hexokinase 2 HK2 E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Histamine receptors, N Histamine receptors, H2 N Histamine receptors, H3 N HLA-B associated transcript 1 BAT1 Holocarboxylase synthetase HLCS E Holoprosencephaly 1 HPE1 G Holoprosencephaly 2 HPE2 G Holoprosencephaly 3 HPE3 G Holoprosencephaly 4 HPE4 G Homeobox (HOX) gene A1 HOXA1 G Homeobox (HOX) gene A10 HOXA10 G Homeobox (HOX) gene A11 HOXA11 G Homeobox (HOX) gene A12 HOXA12 G Homeobox (HOX) gene A13 HOXA13 G Homeobox (HOX) gene A2 HOXA2 G Homeobox (HOX) gene A3 HOXA3 G Homeobox (HOX) gene A4 HOXA4 G Homeobox (HOX) gene A5 HOXA5 G Homeobox (HOX) gene A6 HOXA6 G Homeobox (HOX) gene A7 HOXA7 G Homeobox (HOX) gene A8 HOXA8 G Homeobox (HOX) gene A9 HOXA9 G Homeobox (HOX) gene B1 HOXB1 G Homeobox (HOX) gene B2 HOXB2 G Homeobox (HOX) gene B3 HOXB3 G Homeobox (HOX) gene B4 HOXB4 G Homeobox (HOX) gene B5 HOXB5 G Homeobox (HOX) gene B6 HOXB6 G Homeobox (HOX) gene B7 HOXB7 G Homeobox (HOX) gene B8 HOXB8 G Homeobox (HOX) gene B9 HOXB9 G Homeobox (HOX) gene C13 HOXC13 G Homeobox (HOX) gene C4 HOXC4 G Homeobox (HOX) gene C8 HOXC8 G Homeobox (HOX) gene C9 HOXC9 G Homeobox (HOX) gene D1 HOXD1 G Homeobox (HOX) gene D10 HOXD10 G Homeobox (HOX) gene D12 HOXD12 G Homeobox (HOX) gene D13 HOXD13 G Homeobox (HOX) gene D3 HOXD3 G Homeobox (HOX) gene D4 HOXD4 G Homeobox (HOX) gene D8 HOXD8 G Homeobox (HOX) gene D9 HOXD9 G Homeobox 11HOX11 G Homeobox HB24 HLX1 G Homeobox HB9 HLXB9 G Homeobox, PROX1 PROX1 G Homogentisate 1, 2 dioxygenase HGD E Human placental lactogen CSH1 G Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E <BR> <BR> !C7AandB! Immunoglobulin E (IgE) reponsiveness gene IGER I Indian hedgehog, ihh IHH G Inhibin, alpha INHA G AINHBAGinhibin,beta Inhibin, beta B INHBB G Inhibin, beta C INHBC G Inositol 1,4, 5-triphosphate receptor 3 ITPR3 G Insulin promotor factor 1 IPF1 G Insulin-like growth factor 1 IGF1 G Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 3 ITGB3 G Integrin beta 4 ITGB4 G Integrin, alpha 5 ITGA5 G Integrin, alpha 7 ITGA7 G Inter-alpha-trypsin inhibitor, IATI E Inteferon alpha I IFNBIInterferonbeta Interferon gamma I receptor1IFNGR1IInterferongamma Interferon gamma receptor 2 IFNGR2 I InterferonInterferonregulatory factor IIRF1 Interferon regulatory factor 4 IRF4 I Interleukin (IL) 1 receptor IL1 R I alphaIL1AIInterleukin(IL)1, betaIL1BIInterleukin(IL)1, Interleukin (IL) 10 IL10 I receptorIL10RIInterleukin(IL)10 IL11IInterleukin(IL)11 Interleukin (IL) 11 receptor IL11R Interleukin (IL) 12 IL12 Interieukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 receptorIL13RIInterleukin(IL)13 Interieukin (IL) 2 IL2 I receptor,alphaIL2RAIInterleukin(IL)2 receptor,gammaIL2RGIInterleukin(IL)2 IL3IInterleukin(IL)3 Interleukin (IL) 3 receptor IL3R I Interleukin(IL) 4 IL4 L4 Interleukin (IL) 4 receptor IL4R <BR> <BR> Interleukin (IL) 5 IL5 Interleukin (IL) 5 receptor IL5R IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R Interleukin (IL) 7 IL7 I Interieukin (IL) 7 receptor IL7R IL8IInterleukin(IL)8 Interleukin (IL) 8 receptor IL8R <BR> <BR> Interleukin (IL) 9 IL9 Interleukin (IL) 9 receptor IL9R Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I Isocitrate dehydrogenase E Kallman syndromegene 1 KAL1 G Keratin SKRT1 Keratin SKRT10 Keratin SKRT11 Keratin SKRT12 Keratin SKRT13 Keratin SKRT14 Keratin SKRT15 Keratin SKRT16 Keratin 17 KRT17, PCHC1 S Keratin SKRT18 Keratin SKRT2 Keratin SKRT3 Keratin SKRT4 Keratin SKRT5 Keratin SKRT6 Keratin SKRT7 Keratin SKRT8 Keratin SKRT9 Keratin, 1KRTHA1Sacidic Keratin, hair basic 2 KRTHB1 S Keratin, hair KRTHB6S6 Kininogen, High molecular weight KNG I Lactate dehydrogenase, A LDHA E Lactate dehydrogenase, B LDHB E Lamin GLMNA Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin 5, gamma 2 LAMC2 G Laminin M LAMM G Laminin receptor 1 LAMR1 G Latent transforming growth factor-beta LTBP2 G binding protein 2 <BR> <BR> Leukocyte-specifictranscript1LST-1) Leukotriene A4 I <BR> <BR> LeukotrieneA4synthaseLTA4SE Leukotriene B4 I Leukotriene B4 synthase LTB4S E Leukotriene C4 I Leukotriene C4 synthase LTC4S E LIM homeobox transcription factor 1, beta LMX1 B G Limb girdle muscular dystrophy 1A LGMD1A G Limb girdle muscular dystrophy 1 B LGMD1 B G Limb girdle muscular dystrophy 2G LGMD2G G Limb girdle muscular dystrophy 2H LGMD2H G Limbic associated membrane protein LAMP G Lipoprotein receptor, Low Density LDLR T Lipoxygenase 12 (platelets) LOG12 I <BR> <BR> Loricrin LOR S Low density lipoprotein receptor-related LRP T protein precursor Luteinizing hormone-releasing hormone N Luteinizing hormone-releasing hormone N receptor <BR> <BR> lymphotoxin I Lysosome-associated membrane protein 1 LAMP1 G Lysosome-associated membrane protein 2 LAMP2 G <BR> <BR> Lysozyme LYZ I Lysyl hydroxylase PLOD E Lysyl oxidase LOX E Macrophage activating factor MAF I Macrophage inflammatory IMIP1 Macrophage inflammatory protein-1 receptor I Macrophage inflammatory protein-2 MIP2 I Macrophage inflammatory protein-2 receptor I MADS box transcription-enhancer factor 2A MEF2A G MADS box transcription-enhancer factor 2B MEF2B G MADS box transcription-enhancer factor 2C MEF2C G MADS box transcription-enhancer factor 2D MEF2D G Mannose binding protein MBP I Mannosidase, alpha B lysosomal MANB E Mannosidase, beta A lysosomal MANBA E Marenostrin MEFV T Matrix Gla protein MGP G Matrix metalloproteinase 1 MMP1 E Matrix metalloproteinase 10 MMP10 E Matrix metalloproteinase 11 MMP11E Matrix metalloproteinase 12 MMP12 E Matrix metalloproteinase 13 MMP13E Matrix metalloproteinase 14 MMP14E Matrix metalloproteinase 15 MMP15E Matrix metalloproteinase 16 MMP16E Matrix metalloproteinase 17 MMP17E Matrix metalloproteinase 18 MMP18E Matrix metalloproteinase 19 MMP19 E Matrix metalloproteinase 2 MMP2 E Matrix metalloproteinase 3 MMP3, STMY1 E Matrix metalloproteinase 4 MMP4 E Matrix metalloproteinase 5 MMP5 E Matrix metalloproteinase6 MMP6 E Matrix metalloproteinase 7 MMP7 E Matrix metalloproteinase 8 MMP8 E Matrix metalloproteinase 9 MMP9 E MEK kinase, MEKK E Melanocortin 1 receptor MC1 R T Melanocortin 2 receptor MC2R T Melanocortin 4 receptor MC4R T Mesoderm-specific transcript MEST G Methylguanine-DNA methyltransferase MGMT E Methylmalonyl-CoA mutase MUT E Mevalonate kinase MVK E MHC Class IA MHC Class IB <BR> <BR> MHCOass:C MHC Class LMP-7ILMP-2, I:Tap1ABCR,TAP1IMHCClass MHC Class il: DP HLA-DPB1I MHCDQIII: MHCDRIII: MHC Class II : Tap2 TAP2, PSF2I MHC Class lI : Complementation group A MHC2TAI MHC Class lI: Compiementation group B rfxank I MHC Class lI : Complernentation group C RFX5 I MHC Class lI : Complementation group D RFXAP I Microphthalmia-associated transcription MITF G factor Midline 1 MID1 G Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta HADHB E subunit Moesin, MSN S Molybdenum cofactor synthesis 1MOCS1E Molybdenum cofactor synthesis 2MOCS2E Monoamine oxidase AMAOAE <BR> <BR> MonoamineoxidaseBMAOBE Monocyte chemoattractant protein 1MCP1! <BR> <BR> MucotipidosesGNPTAE Mulibrey nanismMULT Muscarinic receptor, M1CHRM1N <BR> <BR> Muscarinicreceptor.M2CHRM2N<BR> <BR> <BR> <BR> <BR> <BR> Muscarinicreceptor,M3CHRM3N<BR> <BR> <BR> <BR> <BR> <BR> <BR> Muscarinicreceptor,M4CHRM4N<BR> <BR> <BR> <BR> <BR> <BR> Muscarinicreceptor.M5CHRM5N Muscle phosphorytasePYGME Mutated in colorectal cancers, MCC MCC G MutS homolog 3 MSH3 G <BR> <BR> Myeloperoxidase MPO I Myocilin MYOC T Myogenic factor 3 MYF3 G Myogenic factor 4 MYF4 G Myogenic factor 5 MYF5 G <BR> <BR> MyogtobinT Myomesin 1 MYOM1 S Myomesin 2 MYOM2 S Myopia 1 MYP1 T Myopia 2 MYP2 T Myosin 15 MY015 S Myosin 5A MY05A S Myosin 6 MY06 S Myosin SMYO7A Myosin, SMYH7 Myosin, lightchain 2 MYL2 S Myosin, lightchain 3 MYL3 S <BR> <BR> Myotubularin MTM1 S<BR> <BR> <BR> <BR> <BR> <BR> <BR> Na+, K+ ATPase, alpha ATP1A1 G Na+, K+ ATPase, beta 1 ATP1 B1 G Na+, K+ ATPase, beta 2 ATP1 B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ exchanger 1 NHE1 T Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T N-acetylgalactosamine-6-sulfate sulfatase GALNS E N-acetylglucosamine-6-sulfatase GNS E N-acetylglucosaminidase, alpha NAGLU E NADH dehydrogenase E NADH-cytochrome b5 reductase DIA1 E NADPH-dependent cytochrome P450 POR E reductase <BR> <BR> <BR> NB6) Neubulin S <BR> <BR> Nephrosis 1 NPHS1 T Neural retina-specific gene NRL G Neuraminidase sialidase NEU T Neuregulin HGL G <BR> <BR> NeurexinN Neuroendocrine convertase 1 NEC1, PCSK1 E <BR> <BR> NeurokininANKNAN Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Nibrin NBS1 G Noggin NOG G Notch ligand-jagged 1 JAG1, AGS G Nuclear factor IKBLIgene Nuclear factor kappa beta NFKB I Nuclear factor of activated T cells (NFAT) NFATC G complex, cytosolic Nuclear factor of activated T cells (NFAT) NFATP G complex, preexisting component 1OA1SOclaralbinism <BR> <BR> Oculocutaneous albinism 11 OCA2 S Oncogene ERG (early reponse gene) G Oncogene fos FOS G Oncogene GGLI Oncogene GL12 GL12 G Oncogene GL13 GL13 G Oncogene sis PDGFB G Oncogene src G Opioid receptor, delta OPRD1 N Opioid receptor, kappa OPRK1 N Opioid receptor, mu OPRM1 N Ornithine delta-aminotransferase OAT E <BR> <BR> <BR> Osteocalcin S Osteonectin ON G Osteopontin OPN G Osteoprotegerin OPG G Oxytocin OXT N Oxytocin receptor OXTR N <BR> <BR> p21-activated kinase 3 PAK3 G Paired box homeotic gene 1 PAX1 G Paired box homeotic gene 2 PAX2 G Paired box homeotic gene 3 PAX3 G Paired box homeotic gene 6 PAX6 G Paired box homeotic gene 7 PAX7 G Paired box homeotic gene 8 PAX8 G Paired-like homeodomain transcription factor PITX2 G 2 Paired-like homeodomain transcription factor PITX3 G 3 Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G Patched (Drosophila) homolog, PTCH PTCH G <BR> <BR> Peanut-like 1 PNUTL1 I Peripherin, PRPH S Peroxisomal membrane protein 1 PXMP1 S Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome receptor 1 PXR1 T Phenylethanolamine N-methyltransferase, PNMT E PNMT Phosphate regulating gene with homologies PHEX G to endopeptidases on the X chromosome Phosphodiesterase 1/nucleotide PDNP1 G pyrophosphatase 1 Phosphodiesterase 1/nucleotide PDNP2 G pyrophosphatase 2 Phosphodiesterase 1/nucleotide PDNP3 G pyrophosphatase 3 Phosphofructokinase, muscle PFKM E Phosphogiucose isomerase GPI E Phosphoglycerate kinase 1 PGK1 E Phosphoglycerate mutase 2 PGAM2 E Phospholipase A2, group 10 PLA2G10 Phospholipase A2, group 1 B PLA2G1 B Phospholipase A2, group 2A PLA2G2A I Phospholipase A2, group 2B PLA2G2B I Phospholipase A2, group 4A PLA2G4A I Phospholipase A2, group 4C PLA2G4C I Phospholipase A2, group 5 PLA2G5 I <BR> <BR> Phospholipase A2, group 6 PLA2G6 I Phosphomannomutase 2 PMM2 G Phosphoribosyl pyrophosphate synthetase PRPS1 E Phosphorylase kinase, alpha 1 (muscle) PHKA1 E Phosphorylase kinase, beta PHKB E Phosphorylase kinase, delta Phosphorylase kinase, gamma 2 PHKG2E Phytanoyl-CoA hydroxylase PHYH G Pineotytic beta-receptors E Plakophilin 1 PKP1T Plasminogen PLGE Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Plectin 1 PLEC1T Potassium inwardly-rectifying channel J1 KCNJ1N channelE1KCNE1NPotassiumvoltage-gated Potassium voltage-gated channel Q1 KCNQ1N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N POU domain, class 3, transcription factor 4 POU3F4 G POU domain, class 4, transcription factor 3 POU4F3 G Prion protein PRNP N Procoitagen N-protease E Procoitagen peptidase E Prodynorphin N Profibrinolysin G Progesterone receptor (RU486 binding PGR G receptor) Prolactin receptor PRLR G Prolactin releasing hormone PRH G Proliferin PLF G Proopiomelanocortin POMC N <BR> <BR> Properdin P factor, complement PFC, PFD I Prophet of Pit1 PROP1 G Propionyl-CoA carboxylase, alpha PCCA E Prosaposin PSAP N <BR> <BR> Prostacyclin synthase I Prostagtandin 15-OH dehydrogenase HGPD; PGDHI Prostaglandin D-DP receptorI Prostaglandin E1 receptorI Prostaglandin E2 receptorI Prostaglandin E3 receptorI Prostaglandin F-FP receptorI Prostaglandin F2 alpha receptorI Prostaglandin 12 receptor T <BR> <BR> Prostaglandin IP receptor I Prostaglandin isomerase G Protease nexin 2 PN2 E Protective protein for beta-galactosidase PPGB E <BR> <BR> Protein C PROC I<BR> <BR> <BR> <BR> Proteinase 3 1 Purine nucleoside phosphorylase NP E Purinergic receptor P1A1 N Purinergic receptor P1A2 N Purinergic receptor P1A3 N Purinergic receptorP2X,1P2RX1M Purinergic receptorP2X.2P2RX2M Purinergic receptorP2X.3P2RX3N Purinergic receptor P2X, 4P2RX4M Purinergic receptorP2X.5P2RX5\j Purinergic receptor P2X, 6P2RX6M Purinergic receptorP2X.7P2RX7M Purinergic receptorP2Y,1P2RY1M Purinergic receptor P2Y, 11P2RY11M Purinergic receptorP2Y,2P2RY2 Pyrroline-5-carboxylate synthetase PYCSp Pyruvate kinasePKLRc Rabphi)in<BR> <BR> <BR> <BR> <BR> <BR> Radixin RDX s RAS-associated protein, RAB3ARAB3A Rathke pouch homeobox, RPX RPX G Receptor tyrosine kinase (RTK), Nsk2 NSK2 G Retinal pigment epithelium specific protein RPE65g (65kD) Retinitis pigmentosa gene 1 RP1 S Retinitis pigmentosa gene 2 RP2 S Retinitis pigmentosa gene 3 RP3 g Retinitis pigmentosa gene 6RP6s Retinitis pigmentosa gene 7 RP7, RDS s Retinoblastoma 1 RB1 G Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G <BR> <BR> Retinoic acid receptor, gamma RARG G Retinoid X receptor, alpha RXRA G Retinoid X receptor, beta RXRB G Retinoid X receptor, gamma RXRG G Retinol binding protein 4RBP4T <BR> <BR> Rhodopsin RHO s RIGUI RIGUI G Rim N Rod outer segment membrane protein 1 ROM1s Ryanodine receptor 1, skeletal RYR1 G Serotonin N-acetyttransferaseSNATE Serotonin receptor, 5HT1AHTR1AN Serotonin receptor, 5HT1BHTR1BN Serotonin receptor, 5HT1CHTR1CN Serotonin receptor, 5HT1DHTR1DN Serotonin receptor, 5HT1EHTR1EN Serotonin receptor, 5HT1FHTR1F)\j Serotonin receptor, 5HT2AHTR2A Serotonin receptor. 5HT2BHTR2B Serotonin HTR2C5H52C Serotonin receptor, 5HT3 HTR3[\j Serotonin receptor, 5HT4 HTR4N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sex hormone binding globulin, SHBGT Sialoprotein, bone BSP G Signal transducer and activator of STAT1 G transcription 1 Signaling lymphocyte activation molecule SLAMj Sine oculis homeobox, drosophila, homolog 1 S)X1G Sine oculis homeobox, drosophila, homolog 2 SIX2 G Sine oculis homeobox, drosophila, homolog 5 SIX5 G Sjoegren (Sjogren) syndrome antigen A1 SSA1) Slug protein G Small nuclear ribonucleoprotein polypeptide SNRPNS N Smoothelin SMTN G Smoothened (Drosophila) homolog SMOH G Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage gated, type IV, SCN4A N alpha polypeptide Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solute carrier family 1 (glutamate SLC1A1 T transporter), member 1 Solute carrier family 1 (glutamate SLC1A2 T transporter), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member 3 SLC12A3 T Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 17, member 1 SLC17A1 T Solute carrier family 17, member 2 SLC17A2 T Solute carrier family 19 (folate transporter), SLC19A1 T member 1 Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21A3 T Solute carrier family 25, member 12 SLC25A12 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2T transporter, noradrenaline), member 2 Solute carrier family 6, member 10 SLC6A10 T Solute carrier family 6, member 8 SLC6A8 T Solute carrier family 7 (amino acid SLC7A1 T transporter), member 1 Solute carrier family 7 (amino acid SLC7A2 T transporter), member 2 Solute carrier family 7 (amino acid SLC7A7 T transporter), member 7 Solute carrier family 8 (sodium/calcium SLC8A1 T exchanger), member 1 Somatostatin SSTN Somatostatin receptor, SSTR1 SSTR1N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N Sonic hedgehog, SHH SHH G Sorbitol dehydrogenase SORD E Sorcin SRI T Spectrin alpha SPTA1 S Spectrin beta SPTB S Sperm adhesion molecule SPAM1 G Sperm protamine P1 PRM1 G Sperm protamine P2 PRM2 G Sphingomyeiinase SMPD1 E Split hand/foot malformation gene DSS1 G SRY-box 10 SOX10 G SRY-box 11 SOX11 G SRY-box 3 SOX3 G SRY-box 4 SOX4 G SRY-box 9 SOX9 G Steroid 5 alpha reductase 1 SRD5A1 E Steroid 5 alpha reductase 2 SRD5A2 E Steroid sulphatase STS E Substance P N Succinate dehydrogenase 1 SDH1 E Succinate dehydrogenase 2 SDH2 E Sulfamidase SGSH G Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Survival of motor neuron 1, telomeric SMN1 T Synapsin 1 a & 1 b SYN 1 N Synapsin 2a & 2bSYN2N Synaptic vesicle protein 2SV2N Synaptobrevin 1SYB1N Synaptobrevin 2SYB2N <BR> <BR> SynaptogyrinN<BR> <BR> <BR> <BR> SynaptophysinSYPN Synaptosomal-associated protein, 25KDSNAP25N Synaptotagmin 1SYT1N Synaptotagmin 2SYT2N Synovial sarcomagene 1 SSX1 G Synovial sarcoma gene 2 SSX2 G Syntaxin 1STX1N Tachykinin receptor, NK1RTACR1N Tachykinin receptor, NK2R TACR2 N Tachykinin receptor, NK3R TACR3 N Talin, TLN S T-BOX 1 TBX1 G T-BOX 2 TBX2 G T-BOX 3 TBX3 G T-BOX 4 TBX4 G T-BOX 5 TBX5 G T-BOX 6 TBX6 G TEK, tyrosine kinase, endothelial TEK E Telomerase protein componentE Tetranectin TNA T Thrombospondin THBS1 G <BR> <BR> Thromboxane A synthase 1 TBXAS1 I Thromboxane A2 TXA2 I <BR> <BR> Thromboxane A2 receptor TBXA2R I Thymosin) Thyrotropin releasing hormone TRH N Thyrotropin releasing hormone TRH G Thyrotropin releasing hormone receptor TRHR N Tip-associated protein TAP I Tissue non-specific alkaline phosphatase E TNSAP <BR> <BR> <BR> Titin TTN s Tocopherol (alpha) transfer protein TTPA T Torticollis, keloids, cryptorchidism and renal TKCR G dysplasia gene Transforming growth factor, alpha TGFA G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Transglutaminase 1 TGM1 G <BR> <BR> Transglutaminase 2 TGM2 G Transglutaminase 4 TGM4 G Transthyretin TTR T Treacle gene TCOF1 G Triosephosphate isomerase TP11 E Tropomyosin 1 alpha TPM1 S Tropomyosin 3 (non-muscle) TPM3 S Troponin C s Troponin I TNN13 s Troponin T2, cardiacTNNT2s Trypsinogen 1TRY1E Trypsinogen ETRY2 Tubby-like protein GTULP1 Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tumor susceptibility gene 101 TSG101 G Tumour necrosis factor (TNF) receptor TRAF1 associated factor 1 Tumour necrosis factor (TNF) receptor TRAF2 associated factor 2 Tumour necrosis factor (TNF) receptor TRAF3 associated factor 3 Tumour necrosis factor (TNF) receptor TRAF4 associated factor 4 Tumour necrosis factor (TNF) receptor TRAF5 associated factor 5 Tumour necrosis factor (TNF) receptor TRAF6 associated factor 6 Tumour necrosis factor alpha TNFA Tumour necrosis factor alpha receptor TNFAR Tumour necrosis factor beta TNFB I Tumour necrosis factor beta receptor TNFBR I <BR> <BR> Tumour protein p53 TP53, P53 G Tumour protein p63 TP63 G <BR> <BR> Tumour protein p73 TP73 G Tumourprotein, translationally-controlled 1 TPT1 G Tumour suppresssor gene DRA DRA I Tyrosinase TYR E Tyrosinase-related protein 1 TYRP1 E Tyrosine aminotransferase TAT E Ubiquitin activating enzyme, E1 E Ubiquitin protein ligase E3A UBE3A E Uncoupling protein 3 UCP3 T Undulin 1 COL14A1 S Uroporphyrinogen decarboxylase UROD E Usher syndrome 2A USH2A S Vacuolar proton pump, subunit 1 VPP1 N Vacuolar proton pump, subunit 3 VPP3 N Vascular endothelial growth factor VEGF G Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Villin S Vinculin S Vitamin D receptor VDR G Vitelliform macular dystrophy, atypical gene VMD1 T Von Hippel-Lindau gene VHL G Von Willebrand factor VWFT Werner syndrome helicase WRN G Winged helix nude WHN G Wingless family, wnt2 WNT2 G Wingless family, wnt4 WNT4 G Winglessfamily, wnt5 WNT5 G Wingless family, wnt7 WNT7 G Wingless family, wnt8 WNT8 G <BR> <BR> Wiskott-Aldrich syndrome protein WASP, THC I Wnt inhibitory factor, WIF-1 WIF1 G Wolf-Hirschhorn syndrome candidate 1 gene WHSC1 G Wolfram syndrome 1 gene WFS1 S Xeroderma pigmentosum, complementation XPA E group A Xeroderma pigmentosum, complementation XPB E group B Xeroderma pigmentosum, complementation XPC E group C Xeroderma pigmentosum, complementation E group D Xeroderma pigmentosum, complementation E group E Xeroderma pigmentosum, complementation XPF E group F Xeroderma pigmentosum, complementation ERCC5 E group G X-ray repair gene XRCC9 G In a fourteenth aspect.

METABOLIC AND ENDOCRINE FUNCTIONS, DISORDERS AND DISEASE PATENT APPLICATION This invention relates to method of assessing the risk of developing the clinical or social consequences of a metabolic or endocrine disorder or disease and indicating appropriate therapeutic interventions.

Cellular physiology is regulated by a complex series of interactions between molecules, which are referred to collectively as metabolism (Stryer 1995).

Metabolism concerns the two central processes of how cells: extract energy from their environment synthesise and process the molecules required to maintain their function.

The number of molecular interactions taking place within a given cell is enormous and the overall complexity appears daunting. However, decades of study have shown that whilst the overall number of molecular interactions is very great, the types of interactions which molecules experience is finite. There are four major classes of biological molecules; carbohydrates, nucleic acids, lipids and proteins.

The core processes of metabolism can be condensed into a series of statements concerning the overall strategy used (Stryer 1995): ATP is the universal currency of energy; ATP is generated by the oxidation of fuel molecules such as glucose, fatty acids and amino acids, NADPH is the major electron donor in reductive biosyntheses, Biomolecules are constructed from a small set of building blocks, Biosynthetic and degradative pathways are almost always distinct.

The orchestration and co-ordination of this strategy for life is controlled largely by the allosteric interactions and reversible covalent modification of enzymes, by altered expression patterns and levels of key enzymes and by the compartmentation of different patterns of enzyme activity within the cell.

In human physiology a further dimension of complexity is added by the fact that different organs will have different metabolic roles and that a further system-the endocrine system-has evolved in order to integrate metabolism across the whole body.

The endocrine system is a diverse group of specialised tissues-glands-that secrete substances called hormones directly into the blood. The blood transports hormones to other organs or organelles where they interact with specific receptor sites and thus signal changes in cellular activities (e. g. glucocorticoids act to regulate immune system activities such as leucocyte movement or antigen processing). Hormonal secretion is variable and is controlled or prompted by the physiological demands of the body.

Principal endocrine glands include the following; Brain Pituitary Pineal Thyroid Parathyroid Adrenal Pancreas Ovary Testes Gastrointestinal Tract Kidney Thymus Placenta Each of these tissues manufacture and release hormones. Hormones can be classified according to their mode of targeting their sites of action; Autocrine-acting on the same cells that manufacture them (e. g. IGF-1).

Paracrine-acting on neighbouring or distant cells separated by the extracellular space (e. g. insulin).

Endocrine-acting on cells or organs at distant sites and travelling in the blood stream or lymph (e. g. sex hormones) Neuroendocrine-site of manufacture is within a neurone (e. g. GnRH).

Neural-synthesised in a neurone and released to act on an adjacent neurone (i. e. neurotransmitters such as acetylcholine).

Pheromonal-release of volatile hormones into the atmosphere where they can be detected by another individual.

Whatever the mechanism of release and travel to the target tissue, hormones act through specific receptors to generate selectivity of response in the target tissue.

Charged molecules such as peptides generally bind to cell surface receptors and affect cell function by triggering secondary messenger systems (e. g. G proteins, tyrosine kinases). Uncharged molecules such as steroid hormones diffuse into cells and bind to receptor proteins which can be in the cytoplasm or the nucleus (e. g heat shock protein -HSP90). The hormone-receptor complex can then be transported into the nucleus In order to bind to DNA and affect rates of protein transcription and the metabolic activity of cells.

The interaction between metabolism and endocrine regulation is a key event for the maintenance of homeostasis-the ability to main a stable body environment despite changes in the external environment. Integration of the body systems is achieved through a series of regulatory systems which utilise negative and positive feedback mechanisms (systems limit each others'activity within certain parameters) in order to maintain homeostasis.

The critical role of proteins (e. g. as enzymes or transporters in metabolism or hormones in the endocrine system) and the presence of multiple regulatory loops linking the various metabolic and endocrine activities ensures that variability in the functionality of particular proteins can lead to profound clinical consequences.

Genetic variation in genes coding for proteins involved in metabolic or endocrine function can lead to the production of defective enzymes or altered receptor binding affinities. In cystinuria there is a defective transport of cystine, lysine. ornithine, arginine and homoarginine across the epithelium of the small intestine due to a defective protein. In Tay-Sachs disease there is defective processing of hexosaminidase-A leading to gangliosidosis.

The range of clinical manifestations of metabolic and endocrine damage dysfunction or disease is very wide (Weatheral, Leadingham and Warrell 1996) and spans failure to thrive in infancy to infertility problems to dementia.

The range of potential therapeutic interventions is also wide, from simple dietary controls (e. g. phenylketonuria) to liver transplantation (e. g galactosaemia) and gene therapy (e. g. cystic fibrosis).

Metabolism and endocrine status has important implications for therapeutic interventions and particularly drug usage. Body height and weight is one of the critical parameters in calculating drug dosage. Malnourished patients can have aberrant electrolyte balances conferring significant cadiovascular risks with certain drugs such as cholinergic or adrenergic agonists and calcium channel blockers.

Obesity also affects the distribution of lipophilic drugs through the body and the metabolism of many drugs will be affected by the presence of food in the gastrointestinal tract (Brody, Larner, Minneman 1998). Meals can also alter the physiology of the body by inducing vasoconstriction or enhanced metabolism in various organs.

Alterations in endocrine status caused by either changes in physiological state, injury or disease (e. g pregnancy, diabetes, pituitary tumors) are known to have a profound affect on health and response to disease and therapeutic interventions (Weatherall, Leadingham and Warrell 1996, Brody, Lamer and Minneman 1998).

The physiology and control of the body's metabolic and endocrine systems is extremely complex and involves the synergistic or inhibitory interaction between multiple regulatory pathways and molecular cascades. Variation in the functionality of the proteins involved in these processes will, inevitably, cause or have an impact on the functioning of these systems or an individuals attempts to minimise damage and restore function following dysfunction, damage or disease in these systems. A number of constitutional factors are known to impact on the individuals ability to deal with and recover from infection and injury including genetic history, age, sex, nutritional status, pre-existing disease or injury and drug treatments. Genetic variation within individuals is also a key factor although the extent and nature of the genes involved and their precise impact on prognosis, complications, efficacy of therapeutic intervention and eventual recovery of function is largely unknown.

The individual variability in response to damage, dysfunction or diseae affecting the metabolic or endocrine systems and the associated variation in symptomatology, response to therapy and adverse events resulting from therapeutic interventions lies at the heart of the difficulties experienced in the healthcare and social management of metabolic and endocrine damage, dysfunction or disease.

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below : KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION METABOLIC & ENDOCRINE GENE LIST HUGO gene Protein symbol function 17beta hydroxysteroid dehydrogenase 1 HSD17B1 E 17beta hydroxysteroid dehydrogenase 3 HSD17B3 E 17beta hydroxysteroid dehydrogenase 4 HSD17B4 E 17beta hydroxysteroid oxidoreductase E 17-ketosteroid reductase N 18-hydroxysteroid oxidoreductase E 2,3-bisphosphoglycerate mutase BPGM E 2,4-dienoyl CoA reductase DECR E 3 beta hydroxysteroid dehydrogenase 2 HSD3B2 E 3-oxoacid CoA transferase OXCT E 5-adenosyl homocysteine hydrolase E 6-phosphofructo-2-kinase PFKFB1 E 6-pyruvoyltetrahydropterin synthase PTS E Acetoacetyl 1-CoA-thiolase ACAT1 E Acetyl CoA acyltransferase ACAA E Acetyl CoA carboxylase ACC E Acetyl CoA carboxylase alpha ACACA E Acetylcholinesterase ACHE E Acid phosphatase 2, lysosomal ACP2 E Actin, alpha, cardiac ACTC S Actin, alpha, skeletal ACTA1 S Actin, alpha, smooth, aortic ACTA2 S Activin G Activin A receptor, type 2B ACVR2B G Activin A receptor, type 2-like kinase 1 ACVRL1 G Acyl CoA dehydrogenase, long chain ACADL E Acyl CoA dehydrogenase, medium chain ACADM E Acyl CoA dehydrogenase, short chain ACADS E Acyl CoA dehydrogenase, very long chain ACADVL E Acyl CoA synthetase, long chain, 1 LACS1E Acyl CoA synthetase, long chain, 2 LACS2E Acyl CoA synthetase, long chain, 4 ACS4E Acyl malonyl condensing enzymeE Adenomatous polyposis coli tumour APC G supressor gene Adenosine deaminaseADAE Adenosine monophosphate deaminase AMPDE Adenosine receptor A1ADORA1N Adenosine receptor A2AADORA2AN Adenosine receptor A2BADORA2BN Adenosine receptor A3ADORA3N Adeny) cyclase N Adenylate cyclase 1ADCY1E Adenylate cyclase 2ADCY2E Adenylate cyclase 3ADCY3E Adenylate cydase4ADCY4E Adenylate cyclase 5ADCY5E Adenylate cyclase 6ADCY6E Adenylate cyclase 7ADCY7E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9ADCY9E Adenyiate transferase E <BR> <BR> ADP-ribosyitransferaseADPRTE Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenoleukodystrophy gene ALD E Albumin, ALB ALB T Alcohol dehydrogenase 1 ADH1 E Alcohol dehydrogenase 2 ADH2 E Alcohol dehydrogenase 3 ADH3 E Alcohol dehydrogenase 4 ADH4 E Alcohol dehydrogenase 5 ADH5 E Alcohol dehydrogenase 6 ADH6 E Alcohol dehydrogenase 7 ADH7 E Aldehyde dehydrogenase 1 ALDH1 E Aldehyde dehydrogenase 10 ALDH10 E Aldehyde dehydrogenase 2 ALDH2 E <BR> <BR> Aldehydedehydrogenase 5 ALDH5 E Aldehyde dehydrogenase 6 ALDH6 E Aldehyde dehydrogenase 7 ALDH7 E <BR> <BR> AidoiaseAALDOAE Aldolase B ALDOB E <BR> <BR> Aldolase CALDOCE Aldosterone receptor MLR G Alkaline phosphatase, liver/bone/kidney ALPL T Alkylglycerone phosphate synthase AGPS E Alpha 1 acid glycoprotein AAG; AGP T alpha1-antitrypsin Pl E <BR> <BR> alpha-actinin 2 ACTN2 G alpha-actinin 3 ACTN3 G alpha-amino adipic semia!dehydesynthaseE alpha-glucosidase, neutral AB GANAB E alpha-glucosidase, neutral C GANC E <BR> <BR> a)pha-ketog)utaratedehydrogenaseE Aminomethyltransferase AMT E Aminopeptidase P XPNPEP2 E Amphiregulin AREG G <BR> <BR> Amylo-1, 6-glucosidase AGL E Androgen receptor AR G Angiopoietin 1 ANGPT1 G Angiopoietin2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E <BR> <BR> Anti-Mullerian hormone AMH G Anti-Mullerian hormone type 2 receptor AMHR2 G <BR> <BR> ApolipoproteinAI APOA1 T Apolipoprotein A II APOA2 T Apolipoprotein B APOB T <BR> <BR> Apolipoprotein C1 APOC1 T Apolipoprotein C2 APOC2 T Apolipoprotein C3 APOC3 T Apolipoprotein D APOD T Apolipoprotein E APOE T Apoiipoprotein H APOH T Aquaporin 1 AQP1 T Aquaporin 2 AQP2 T Arginine vasopressin AVP N Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Asparagine synthetase AS E Aspartate transcarbamoylase E Ataxia telangiectasia complementation group ATD, ATDC G D Ataxia telangiectasia gene, AT ATM G ATP cobalamin adenoxyltransferase E Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Attraction Autoimmune regulator, AIRE AIRE I beta-endorphin receptor N beta-galactosidase GLB1 E beta-ketoacyl reductase E Bile acid coenzyme A: amino acid N-BAAT E acyltransferase Bile salt export pump BSEP, PFIC2 T Bile salt-stimulated lipase CEL E Bilirubin UDP-glucuronosyltransferase E Bloom syndrome protein BLM G Bradykinin receptor B 1 Bradykinin receptor B2. I Branched chain aminotransferase 1, cytosolic BCAT1 E Branched chain aminotransferase 2, BCAT2 E mitochondrial Branched chain keto acid dehydrogenase E1, BCKDHA E alpha polypeptide Branched chain keto acid dehydrogenase E1, BCKDHB E beta polypeptide Butyrylcholinesterase BCHE E C17-20 desmolase E C3 convertase E Calbindin 1 CALB1 G Calbindin D9K CALB3 G <BR> <BR> <BR> CalcineurinA1 CALNA1<BR> <BR> <BR> <BR> <BR> <BR> Calcineurin A2 CALNA2 i<BR> <BR> <BR> <BR> <BR> <BR> Calcineurin A3 CALNA3 !<BR> <BR> <BR> <BR> <BR> Calcineurin B ! Calcitonin receptor/Calcitonin gene-related CALCR N peptide receptor Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha CACNA1 F N 1 F subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha- CACNA1E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, L type, CACNA1 S N alpha 1 S subunit <BR> <BR> Catciumchannet,vottage-dependent,CACNG2N Neuronal, Gamma Calcium channel, vo)tage-dependent,P/QCACNA1AN type, alpha 1A subunit Calcium channel, voltage-dependent, T-typeN Calcium sensing receptorCASRT Calmodulin 1 CALM1 G Calmodulin 2 CALM2 G Calmodulin 3 CALM3 G Calmodulin-dependant protein kinase 11 CAMK2A G <BR> <BR> Calnexin CANX G Calpain CAPN, CAPN3 E <BR> <BR> Calretinin retininCALB2N Canalicular multispecific organic anionCMOATT transporter Cannabinoid receptor CNR1 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Carboxylesterase 1 CES1 E <BR> <BR> Cardiac-specific homeobox, CSX CSX G Carnitine acetyltransferase CRAT E <BR> <BR> Carnitineacylcarnitinetranslocase CACT E Carnitine palmitoyltransferase I CPT1A E Carnitine palmitoyitransferase 11 CPT2 E Carnitine transporter protein CDSP, SCD T Carnosinase N Cartilage-hair hypoplasia gene CHH N <BR> <BR> Catechol-O-methyltransferase COMT E Cell adhesion molecule, intercellular, ICAM ICAM1 G Cell adhesion molecule, leukocyte-LECAM1 G endothelial, LECAM (CD62) Cell adhesion molecule, liver, LCAM LCAM G Cell adhesion molecule, neural, NCAM1 NCAM1 G Cell adhesion molecule, neural, NCAM120 NCAM120 G Cell adhesion molecule, neural, NCAM2 NCAM2 G Cell adhesion molecule, platelet-endothelial, PECAM1 G PECAM Cell adhesion molecule, vascular, VCAM VCAM1 G c-erbB2 ERBB2 G c-erbB3 ERBB3 G c-erbB4 ERBB4 G Chitotriosidase chit E Cholecystokinin CCK N Cholecystokinin B receptor CCKBR N Cholesterol ester hydroxylase E Cholesterol ester transfer proteinCETPT Choline acety!transferaseCHATE Chromogranin A CHGA G Chymase CHY1 Citrate synthase E <BR> <BR> CiathrinT Clusterin CLU G CoA transferase E <BR> <BR> Co)!agen)Vatpha5COL4A5s Collage IV alpha 6 COL4A6 s <BR> <BR> Complex))!E Complex V MTATP6 E Corticosteroid binding globulin CBG N Corticotrophin-releasing hormone CRH T Corticotrophin-releasing hormone receptor CRHR1 T <BR> <BR> Cortisoi receptor I<BR> <BR> <BR> <BR> <BR> <BR> CubitinCUBNT<BR> <BR> <BR> <BR> <BR> <BR> CycticAMP-dependentproteinkinasePKAE<BR> <BR> <BR> <BR> <BR> <BR> CydicnudeotidephosphodiesteraselBPDE1BE<BR> <BR> <BR> <BR> <BR> Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E<BR> <BR> <BR> <BR> <BR> <BR> Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclin-dependent kinase inhibitor 1C (P57, CDKN1C G KIP2) Cyclin-dependent kinase inhibitor 2A (p16) CDKN2A G Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E <BR> <BR> CYP11A1 CYP11A1 E CYP11B1CYP11B1E <BR> <BR> CYP11 B2 CYP11 B2 E<BR> <BR> <BR> <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> <BR> <BR> CYP19 CYP19 E<BR> <BR> <BR> <BR> <BR> <BR> CYP1A1 CYP1A1 E<BR> <BR> <BR> <BR> <BR> <BR> CYP1A2 CYP1A2 E CYP1B1CYP1B1E CYP21 CYP21 E <BR> <BR> CYP24 CYP24 E CYP27 CYP27 E CYP27B1 PDDR E CYP2A1CYP2A1E<BR> <BR> <BR> <BR> <BR> CYP2A13 CYP2A13 E CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E <BR> <BR> CYP2C18CYP2C18E<BR> <BR> <BR> <BR> <BR> CYP2C19 CYP2C19 E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E ECYP2E1CYP2E1 <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E<BR> <BR> <BR> <BR> CYP4B1 CYP4B1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cystic fibrosis transmembrane conductance CFTR N regulator, CFTR Cystinosin CTNS T Cytidine deaminase CDA E Cytidine-5-prime-triphosphatesynthetase CTPS E Cytochromea E Cytochromec E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 I binding protein 1 Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 DAX1nuclear receptor DAX1 I D-beta-hydroxybutyratedehydrogenase E Dehydratase E Delta 4-5 oxosteroid isomerase E Delta aminolevulinate synthase 1 ALAS1 E Delta aminolevulinate synthase 2 ALAS2 E Deoxycorticosterone (DOC) receptor E Deoxyuridine triphosphatase; dUTPase E DHEA sulfotransferase STD E Dihydrodiol dehydrogenase 1DDH1E Dihydrolipoamide branched chain DBT N transacylase <BR> <BR> Dihydrolipoamide dehydrogenase DLD N Dihydrolipoyl dehydrogenase2PDHAE <BR> <BR> Dihydrotipoy)transacetyiasePDHAE<BR> <BR> <BR> <BR> <BR> DihydroorotaseE<BR> <BR> <BR> <BR> <BR> DihydropyramidinaseDPYSE<BR> <BR> <BR> <BR> <BR> Dihydroxyacetonephosphate acyltransferase DHAPAT E Dihyropyrimidine dehydrogenase DPYD E DNA glycosylases E DNA helicases E DNA Ligase 1 LIG1 E DNA methyltransferase DNMT E DOPA decarboxylase DDC E Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N GDynaminDNM1 Electron-transfering-flavoprotein TETFA Electron-transfering-flavoprotein beta ETFB T Electron-transferringflavoprotein ETFDH E dehydrogenase Endometrial bleed ing-associated factor EBAF G Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Enoyl CoA reductase E Enterokinase PRSS7, ENTK E Ephrin receptor tyrosine kinase A EPHA G Ephrin receptor tyrosine kinase B EPHB G Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G <BR> <BR> Erythropoietin EPO I Estrogen receptor ESR G Excision repair complementation group 1 ERCC1 E protein Factor 1 (No. one) F1 FADH dehydrogenase E Fatty acid binding proteins FABP2 FABP2 T Fc fragment of IgG, high affinity IA, receptor FCGR1A G for Fc fragment of IgG, low affinity Ila, receptor FCGR2A G for (CD32) Fc fragment of IgG, low affinity Illa, receptor FCGR3A G for (CD16) Ferritin, H subunit T Ferritin, L subunit FTL T Fibrinogen alpha FGA S Fibrinogen beta FGB S Fibrinogen gammaFGGs Fibroblast growth factor FGF1 G Fibroblast growth factor receptor 1 FGFR1 G Fibroblast growth factor receptor 2 FGFR2 G Fibroblast growth factor receptor 3 FGFR3 G Flavin-containing monooxygenase 1FM01E Flavin-containing monooxygenase 2 FM02 E Flavin-containing monooxygenase 3 FM03 E <BR> <BR> Flavin-containing monooxygenase 4 FM04 E Follicle stimulating hormone receptor FSHR, ODG1 G Follicle stimulating hormone, FSH FSHB G Follistatin G Frataxin FRDA G Fructose-1,6-diphosphatase FBP1 E Fumarase FH E <BR> <BR> <BR> Fumarylacetoacetase FAH E GABA receptor, alpha 1 GABRA1 N GABA receptor, alpha 2 GABRA2 N GABA receptor, alpha 3 GABRA3 N GABA receptor, alpha 4 GABRA4 N GABA receptor, alpha 5 GABRA5 N GABA receptor, alpha 6 GABRA6 N GABA receptor, beta 1 GABRB1 N GABA receptor, beta 2 GABRB2 N GABA receptor, beta 3 GABRB3 N GABA receptor, gamma 1 GABRG1 N GABA receptor, gamma 2 GABRG2 N GABA receptor, gamma 3 GABRG3 N GABA transaminase ABAT E Galactocerebrosidase GALC E Galactokinase GALK1 E <BR> <BR> <BR> Galactose 1-phosphate uridyl-transferase GALT E Galanin GAL N Galanin receptor GALNR1 N Gamma-glutamyl carboxylase GGCX T Gamma-glutamyltransferase 1 GGT1 T Gamma-glutamyltransferase 2 GGT2 T Gap junction protein beta 1 GJB1 T Gap junction protein beta 3 GJB3 T Gastric inhibitory polypeptide GIP GIP T Gastric inhibitory polypeptide receptor, GIPR GIPR T Gastric Intrinsic factor, GtFG)FE Gastric lipase, LIPF T Gastrin GAS G Gastrin releasing peptide GRP T Gastrin releasing peptide receptor GRPR T Glucagon receptor GCGR G Giucagon synthase T Glucagon-like peptide receptor 1 GLP1 R G Glucocorticoidreceptor GRL G <BR> <BR> GiucokinaseGCKE Glucosaminyl (N-acetyl) transferase 2, I-GCNT2 E branching enzyme Glucose-6-phosphatase G6PC E <BR> <BR> Glucose-6-phosphatase translocase G6PT1 E<BR> <BR> <BR> <BR> <BR> Glucose-6-phosphate dehydrogenase G6PD E Glucosidase, acid beta GBA E Glutamate decarboxylase, GAD GAD1 E Glutamate dehydrogenase GLUD1 E <BR> <BR> Glutamine phosphoribosylpyrophosphate E amidotransferase/PRPP amidotransferase Glutamine synthase E Glutathione GSH T Glutathione peroxidase, GPX2 GPX2 E Glutathione reductase, GSR GSR E Glutathione S-transferase, GSTZ1 GSTZ1 E Glutathione synthetase GSS E Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH <BR> <BR> <BR> Glycerolkinase GK E Glycerophosphate dehydrogenase 2 GPD2 E Glycinamide ribonucleotide (GAR) GART E transformylase Glycine dehydrogenase GLDC E Glycogen branching enzyme GBE1 E Glycogen phosphorylase PYGL E Glycogen synthase 1 (muscle) GLYS1 E Glycogen synthase 2 (liver) GYS2 E Glycosyltransferases, ABO blood group ABO E Gonadotropin releasing hormone GNRH G Gonadotropin releasing hormone receptor GNRHR G Growth arrest-specific homeobox GAX G Growth hormone 1 GH1 G Growth hormone 2 (placental) GH2 G Growth hormone receptor GHR G Growth hormone releasing hormone (GHRH) GHRH G Growth hormone releasing hormone receptor GHRHR G GTP cyicohydrolase 1 GCH1 G GTPase-activating protein, GAP RASA1 G Guanidinoacetate N-methyltransferase GAMT E Guanine nucleotide-binding protein, alpha GNA01 N activating activity polypeptide, GNAO Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNAI1 Guanine nucleotide-binding protein, alpha GNA12 N inhibiting activity polypeptide 2, GNA12 Guanine nucleotide-binding protein, alpha GNAO N inhibiting activity polypeptide 3, GNAI3 Guanine nucleotide-binding protein, alpha GNAS1 N stimulating activity polypeptide, GNAS1 Guanine nucleotide-binding protein, alpha GNAS2 N stimulating activity polypeptide, GNAS2 Guanine nucleotide-binding protein, alpha GNAS3 N stimulating activity polypeptide, GNAS3 Guanine nucleotide-binding protein, alpha GNAS4 N stimulating activity polypeptide, GNAS4 Guanine nucleotide-binding protein, alpha GNAT1 N transducing activity polypeptide, GNAT1 Guanine nucleotide-binding protein, alpha GNAT2 N transducing activity polypeptide, GNAT2 Guanine nucleotide-binding protein, beta GNB3 N polypeptide 3 Guanine nucleotide-binding protein, gamma GNG5 N polypeptide 5 Guanine nucleotide-binding protein, q GNAQ N polypeptide Guanylate cyclase 2D, membrane (retina-GUCY2D E specific) Guanylate cyclase activator 1A (retina) GUCA1A E Guanylate kinase E Guanylin GUCA2 T Guanylyl cyclase E Heat shock protein, HSP60 I Heat shock protein, HSP70 I Heat shock protein, HSP90 I Heat shock protein, HSPA1 Heat shock protein, HSPA2 I Hemopexin HPX I Heparin binding epidermal growth factor HBEGF G Hepatic lipase LIPC E Hepatic nuclear factor-3-beta HNF3B E Hepatic nuclear factor-4-alpha HNF4A E Hexokinase 1 HK1 E Hexokinase 2 HK2 E Hexosaminidase A HEXA, TSD E Hexosaminidase B HEXB E Histamine receptors, H 1 N Histamine receptors, H2 N Histamine receptors, H3 N <BR> <BR> HMG-CoAlyase HMGCL E HMG-CoA reductase HMGCR E HMG-CoA synthase HMGCS2 E Holocarboxylase synthetase HLCS E <BR> <BR> Holoprosencephaly 1 HPE1 G Holoprosencephaly 2 HPE2 G Holoprosencephaly 3 HPE3 G Holoprosencephaly 4 HPE4 G Homeobox (HOX) gene A13 HOXA13 G Hormone-sensitive lipase HSL E HSSB, replication protein E Human chorionic gonadtrophin, hCG CG G Human placental lactogen CSH1 G Hydroxyacyl glutathione hydrolase HAGH E Hypoxanthine-guanine HPRT E phosphoribosyltransferase, HGPRT Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E Iduronate 2 sulphatase IDS E Immunoglobulin E (IgE) reponsiveness gene IGER I Immunoglobulin E (IgE) serum concentration IGES I regulator gene Immunoglobulin gamma (IgG) 2 IGHG2 Indian hedgehog, ihh IHH G Inhibin, alpha INHA G <BR> <BR> Inhibin, beta A INHBA G Inhibin, beta B INHBB G Inhibin, beta C INHBC G Inosine monophosphate dehydrogenase, E IMPDH Inosine triphosphatase ITPA E <BR> <BR> Inositol 1, 4, 5-triphosphate receptor 1 ITPR1 G Inositol monophosphatase N Inositol polyphosphate 1-phosphatase INPP1 N Insulin INS G Insulin receptor INSR G Insulin receptor substrate-1 IRS1 G Insulin-like growth factor 1 IGF1 G <BR> <BR> Insulin-like growth factor 1 receptor IGF1 R G Insulin-like growth factor 2 IGF2 G Insulin-like growth factor 2 receptor IGF2R G Integrin beta 1 ITGB1 G Integrin beta 2 ITGB2 G Interleukin (IL) 1 receptor L1R) Interieukin (IL) 1, alpha L1A! betaIL1BInterleukin(IL)1, IL10IInterleukin(IL)10 Interleukin(IL) 10 IIL10R Interleukin (IL) 11 IL11 Interleukin (IL) 11 receptor L11R <BR> <BR> Interleukin (IL) 12 IL12 Interleukin (IL) 12 receptor, beta 1 IL12RB1 I IL13IInterleukin(IL)13 receptorIL13RIInterleukin(IL)13 <BR> <BR> Interleukin (IL) 2 IL2 Interleukin (IL) 2 receptor, alpha IL2RA Interleukin (IL) 2 receptor, gamma IL2RG I Interleukin (IL) 3 IL3 I receptorIL3RIInterleukin(IL)3 <BR> <BR> Interleukin (IL) 4 IL4 Interleukin(IL) 4 receptor IL4R Interleukin (IL) 5 IL5 I Interleukin (IL) 5 receptor IL5R IL6IInterleukin(IL)6 Interleukin (IL) 6 receptor IL6R <BR> <BR> Interleukin (IL) 7 IL7 Interleukin (IL) 7 receptor IL7R Interleukin (IL) 8 IL8 Interleukin(IL) 8 receptor IL8R IL9IInterleukin(IL)9 Interleukin (IL) 9 receptor IL9R I Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I lodothyronine-5'-deiodinase, type 1 and 2 E IP3 kinase E polypeptideIAPPNIsletamyloid Isocitrate dehydrogenase E Isovaleric acid CoA dehydrogenase IVD E Janus kinase 1 JAK1 G Janus kinase 2 JAK2 G Janus kinase 3 JAK3 G gene1KAL1GKallmansyndrome Ketohexokinase KHK E <BR> <BR> <BR> ketolase E Lactase E Lactotransferrin LTF T Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin receptor 1 LAMR1 G Lecithin-cholesterol acyltransferase LCAT E Leptin LEP G Leptin receptor LEPR G Leukotriene C4 synthase LTC4S E LH/choriogonadotropin (CG) receptor LHCGR G Lipoamide dehydrogenase OGDH E Lipoprotein!ipaseLPLt Lipoprotein, High DensityHDLDT1T Lipoprotein, Intermediate DensityT Lipoprotein, Low Density 1 T Lipoprotein, Low Density 2T Lipoprotein, Very Low DensityVLDLRT Lipoprotein-associated coagulationfactorLAC)) <BR> <BR> LipoxygenaseE Lipoxygenase12(ptatetets)LOG12) Lipoxygenase 5 (teukocytes)t Luteinizing hormone, beta chain LHB G <BR> <BR> Lymphocyte-specific protein tyrosine kinase LCK I Lysosomal acid lipase LIPA E MAD (mothers against decapentaplegic, MADH2 G Drosophila) homologue 2 <BR> <BR> Malate dehydrogenase, mitochondrial MDH2 E Malonyl CoA decarboxyjaseE Maionyi CoA transferase E <BR> <BR> Maitase-giucoamytaseE Mannosidase, alpha B lysosomal MANB E Mannosyl (alpha-1, 6-)-glycoprotein beta-1, 2-MGAT2 T N-acetylglucosaminyltransferase Marenostrin MEFV T <BR> <BR> Matrix Gla protein MGP G MEK kinase, MEKK E <BR> <BR> Melanocortin 2 receptor MC2R T<BR> <BR> <BR> <BR> <BR> Melanocortin 4 receptor MC4R T<BR> <BR> <BR> <BR> Menin MEN1 G Methionine adenosyltransferase MAT1A, MAT2A E Methionine synthase MTR E Methionine synthase reductase MTRR E <BR> <BR> Methylguanine-DNA methyltransferase MGMT E Methylmalonyl-CoA mutase MUT E Mitochondrial trifunctional protein, alpha HADHA E subunit Mitochondrial trifunctional protein, beta HADHB E subunit Molybdenum cofactor synthesis 1 MOCS1 E Molybdenum cofactor synthesis 2 MOCS2 E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Multidrug resistance associated protein MRP G Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Muscle phosphorylase PYGM E Na+, K+ ATPase, alpha ATP1A1 G Na+, K+ ATPase, beta 1 ATP1 B1 G Na+, K+ ATPase, beta 2 ATP1B2 G Na+, K+ ATPase, beta 3 ATP1 B3 G Na+/H+ exchanger 1 NHE1 T Na+/H+ exchanger 2 NHE2 T Na+/H+ exchanger 3 NHE3 T Na+/H+ exchanger 4 NHE4 T Na+/H+ exchanger 5 NHE5 T <BR> <BR> N-acetyltransferase 1 NAT1 E<BR> <BR> <BR> <BR> <BR> N-acetyltransferase 2 NAT2 E NADH dehydrogenase (ubiquinone) Fe-S NDUFS1 E protein 1 NADH dehydrogenase (ubiquinone) Fe-S NDUFS4 E protein 4 NADH dehydrogenase (ubiquinone) NDUFV1 E flavoprotein 1 NADH-cytochrome b5 reductase DIA1 E <BR> <BR> NADPH-dependent cytochrome P450 POR E reductase Nephronophthisis 1 NPHP1 T Nephrosis 1 NPHS1 T Nerve growth factor NGF G Nerve growth factor receptor NGFR G Neuraminidase sialidase NEU T <BR> <BR> <BR> Neuregulin HGL G Neuroendocrine convertase 1 NEC1, PCSK1 E Neurofibromin 1 NF1 G Neurofibromin 2 NF2 G Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Neurotensin NTS N Neurotensin receptor NTSR1 N Neurotrophin 3 NTF3 or NT3 G Neutral endopeptidase E Niemann-Pick disease protein NPC1 T Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Notch ligand-jagged 1 JAG 1, AGS G Nucleoside diphosphate kinase-A NDPKA E Oncogene ret RET G Oncogene sis PDGFB G <BR> <BR> Orexin OX G Orexin 1 receptor OX1 R G Orexin 2 receptor OX2R G <BR> <BR> Ornithinedelta-aminotransferase OAT E OrnithinetranscarbamoytaseOTC.NME1E<BR> <BR> <BR> <BR> OxytocinOXTN Oxytocin receptorOXTRN Paired box homeotic gene 6 PAX6 G Paired box homeotic gene 8 PAX8 G Palmitoyl-protein thioesterasePPTT Pancreatic iipasePNUPE Paraoxonase PON1PON1E Paraoxonase PON2PON2E Paraoxonase PON3 E Parathyroid hormone PTH G Parathyroid hormone receptor PTHR1 G Parathyroid hormone related-peptide PTHrP G Parathyroid hormone-like hormone PTHLH G <BR> <BR> Peanut-)ike1PNUTL1! Peptidylglycine aipha-amidatingPAME monooxygenase Peroxidase, sativarySAPXE Peroxisomal membrane protein 3 PXMP3 T Peroxisome biogenesis factor 1 PEX1 T Peroxisome biogenesis factor 19 PEX19 T Peroxisome biogenesis factor 6 PEX6 T Peroxisome biogenesis factor 7 PEX7 T Peroxisome proliferative activated receptor, PPARA T alpha Peroxisome proliferative activated receptor, PPARG T gamma P-glycoprotein 1 PGY1 T P-glycoprotein 3 PGY3 T Phenylalanine hydroxylase PAH E Phenylalanine monooxygenaseE Phenylethanolamine N-methyltransferase, PNMT E PNMT Phosphodiesterase 1/nucleotide PDNP1 G pyrophosphatase 1 Phosphodiesterase 1/nucleotide PDNP2 G pyrophosphatase 2 Phosphodiesterase 1/nucleotide PDNP3 G pyrophosphatase 3 Phosphoenolpyruvate carboxykinase PCK1 E Phosphofructokinase, liver PFKL E Phosphofructokinase, muscle PFKM E <BR> <BR> PhosphogiucomutaseE Phosphoglucose isomerase GPI E Phosphoglycerate kinase 1PGK1E Phosphoglycerate mutase 2PGAM2E <BR> <BR> PhosphoiipaseA2,group10PLA2G10!<BR> <BR> <BR> <BR> PhospholipaseA2, group 1B PLA2G1B Phospholipase A2, group 2A PLA2G2A<BR> <BR> <BR> <BR> Phospholipase A2, group 2B PLA2G2B Phospholipase A2, group 4A PLA2G4A <BR> <BR> Phospholipase A2, group 4C PLA2G4C Phospholipase A2, group 5PLA2G5 Phospholipase A2, group 6 PLA2G6 Phospho!ipase C alpha Phosphotipase C beta Phospholipase C delta PLCD1 I Phosphotipase C epsilon Phospholipase C gamma PLCG1 Phosphomannomutase 2 PMM2 G Phosphomannomutase-2 PMM2 T Phosphomannose isomerase-1, PM11 MPI T Phosphoribosyl pyrophosphate synthetase PRPS1 E Phosphorylase kinase deficiency, liver PHK E Phosphorylase kinase, alpha 1 (muscle) PHKA1 E Phosphorylase kinase, alpha 2 PHKA2 E Phosphorylase kinase, beta PHKB E Phosphorylase kinase, delta E Phosphorylase kinase, gamma 2 PHKG2 E Phytanoyl-CoA hydroxylase PHYH G Pineolytic beta-receptors E Pituitary adenylate cyclase activating peptide PACAP N Pituitary adenylate cyclase activating peptide PACAP1 R N receptor Plasminogen activator receptor, Urokinase UPAR; PLAUR S Plasminogen activator, Tissue PLAT; TPA E Plasminogen activator, Urokinase UPA; PLAU E Platelet derived growth factor PDGF G Platelet derived growth factor receptor PDGFR G Poly (ADP-ribose) synthetase PARS E Polycystin 1 PKD1 T Polycystin 2 PKD2 T HMBSEPorphobilinogendeaminase Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channei E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Preproenkephalin PENK N Preproglucagon GCG; GLP1; GLP2 G Preproglucagon T Preproinsulin T Profibrinolysin G Progesterone receptor (RU486 binding PGR G receptor) Prolactin PRL G Prolactin receptor PRLR G Prolactin releasing hormone PRH G Proliferin PLF G <BR> <BR> ProtinedehydrogenasePRODHE Proline-rich protein BstNl subfamily 1PRB1 s Proline-rich protein BstNI subfamily 3 PRB3 s Proline-rich protein BstNI subfamily 4 PRB4 s Pro-melanin-concentrating hormone PMCH G <BR> <BR> ProopiometanocortinPOMCN Prophet of Pit1 PROP1 G Prostacyclin synthase I Prostaglandin (PG) D synthase, PGDSE hematopoietic <BR> <BR> Prostaglandin 15-OH dehydrogenase HGPD; PGDH I Prostaglandin D-DP I Prostagtandin E1 receptor Prostagtandin E2 receptor Prostagtandin E3 receptor Prostaglandin F-FP I Prostagiandin 12 receptor <BR> <BR> Prostagtandin IP receptor I Prostaglandin isomerase G Prostasin, PRSS8 PRSS8 E Protease nexin 2 PN2 E Protein kinase B PRKB Protein kinase C, alpha PRKCA E Protein S PROS1 Protoporphyrinogen oxidase PPOX E Pterin-4-alpha;-carbinolaminePCBD Pyrroline-5-carboxylate synthetase PYCS E Pyruvate carboxylase PC E Pyruvate decarboxylase PDHA E Pyruvate kinase PKLR E Quinoid dihydropteridine reductase QDPR E Rathke pouch homeobox, RPX RPX G Relaxin H 1 RLN 1 G Relaxin H2 RLN2 G Renin REN E Replication factor C RFC2 E Retinal pigment epithelium specific protein RPE65 S (65kD) Retinaldehyde binding protein 1 RLBP1 T Retinoic acid receptor, alpha RARA G Retinoic acid receptor, beta RARB G Retinoic acid receptor, gamma RARG G Retinoid X receptor, alpha RXRA G Retinoid X receptor, beta RXRB G Retinoid X receptor, gamma RXRG G Retinoi binding protein 1 T Retinol binding protein 2 T Ribosephosphate pyrophosphokinase E RIGUI RIGUI G Ryanodine receptor 1, skeletal RYR1 G S100 calcium-binding protein A1 S100A1 N S100 calcium-binding protein A2 S100A2 N S100 calcium-binding protein A3 S100A3 N S100 calcium-binding protein A4 S100A4 N S100 calcium-binding protein A5 S100A5 N S100 calcium-binding protein A6 S100A6 N S100 calcium-binding protein A7 S100A7 N S100 calcium-binding protein A8 S100A8 N S100 calcium-binding protein A9 S100A9 N S100 calcium-binding protein B S100B N S100 calcium-binding protein P S100P N S-adenosylmethionine decarboxylase, AMD E Salivary amylase, AMY1 T Secretin SCT T Secretin receptor, SCTR SCTR T Serine hydroxymethyltransferase SHMT E Serotonin N-acetyltransferase SNAT E Serotonin receptor, 5HT1A HTR1A N Serotonin receptor, 5HT1B HTR1B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonin receptor, 5HT1 E HTR1 E N Serotonin receptor, 5HT1 F HTR1 F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Serum amyloid A SAA T Serum amyloid P SAP T Sex determining region Y, SRY SRY G Sex hormone binding globulin, SHBG T Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, SCNN1G N gamma Sodium channel, voltage-gated, type 1, beta SCN1 B N polypeptide Solute carrier family 1 (amino acid SLC1A6 T transporter), member 6 Solute carrier family 1 (neutral amino acid SLC1A4 T transporter), member 4 Solute carrier family 10 (sodium/bile acid SLC10A1 T cotransporter family), member 1 Solute carrier family 10 (sodium/bile acid SLC10A2T cotransporter family), member 2 Solute carrier family 12, member 1 SLC12A1 T Solute carrier family 12, member 2 SLC12A2 T Solute carrier family 12, member3 SLC12A3T Solute carrier family 14, member 2 SLC14A2 T Solute carrier family 15 (H+/peptide SLC15A1 T transporter, intestinal), member 1 Solute carrier family 15 (H+/peptide SLC15A2 T transporter, kidney), member 2 Solute carrier family 16 (monocarboxylate SLC16A1 T transporter), member 1 Solute carrier family 16 (monocarboxylate SLC16A7 T transporter), member 7 Solute carrier family 17, member 1 SLC17A1 T Solute carrier family 17, member2 SLC17A2 T Solute carrier family 2 (facilitated glucose SLC2A1 T transporter), member 1 Solute carrier family 2 (facilitated glucose SLC2A2 T transporter), member 2 Solute carrier family 2 (facilitated glucose SLC2A3 T transporter), member 3 Solute carrier family 2 (facilitated glucose SLC2A4 T transporter), member 4 Solute carrier family 2 (facilitated glucose SLC2A5 T transporter), member 5 Solute carrier family 20, member 3 SLC20A3 T Solute carrier family 21, member 2 SLC21A2 T Solute carrier family 21, member 3 SLC21A3 T Solute carrier family 22, member 1 SLC22A1 T Solute carrier family 22, member 2 SLC22A2 T Solute carrier family 22, member 5 SLC22A5 T Solute carrier family 3 (facilitated glucose SLC3A1 T transporter), member 1 Solute carrier family 4 (anion exchanger), SLC4A1 T member 1 Solute carrier family 4 (anion exchanger), SLC4A2 T member 2 Solute carrier family 4 (anion exchanger), SLC4A3 T member 3 Solute carrier family 5 (sodium/glucose SLC5A1 T transporter), member 1 Solute carrier family 5 (sodium/glucose SLC5A2 T transporter), member 2 Solute carrier family 5 (sodium/glucose SLC5A5 T transporter), member 5 Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Solute carrier family 6 (neurotransmitter SLC6A4 T transporter, serotonin), member 4 Solute carrier family 6, member 10 SLC6A10 T Solute carrier family 6, member 6 SLC6A6 T Solute carrier family 6, member 8 SLC6A8 T Solute carrier family 7 (amino acid SLC7A1 T transporter), member 1 Solute carrier family 7 (amino acid SLC7A2 T transporter), member 2 Solute carrier family 7 (amino acid SLC7A7 T transporter), member 7 Solute carrier family 8 (sodium/calcium SLC8A1 T exchanger), member 1 Somatostatin SST N Somatostatin receptor, SSTR1 SSTR1 N Somatostatin receptor, SSTR2 SSTR2 G Somatostatin receptor, SSTR3 SSTR3 N Somatostatin receptor, SSTR4 SSTR4 N Somatostatin receptor, SSTR5 SSTR5 N Somatotrophin G Sorcin SRI T SOS1 guanine nucleotide exchangefactor SOS1 G Sperm protamine P1 PRM1 G Sperm protamine P2 PRM2 G Sphingomyelinase SMPD1 E SRY-box 10 SOX10 G SRY-box11 SOX11 G SRY-box 3 SOX3 G SRY-box 4 SOX4 G SRY-box 9 SOX9 G Steroid sulphatase STS E Steroidogenic acute regulatory protein STAR T Substance P N Succinyl CoA synthase E Sucrase E Sulfonylurea receptor SUR G Superoxide dismutase 1 SOD1 E Superoxide dismutase 3 SOD3 E Surfeit 1 SURF1 G <BR> <BR> T-BOX 1 TBX1 G<BR> <BR> <BR> <BR> <BR> T-BOX 3 TBX3 G Thiotase, perioxisomal E Thiopurine S-methyttransferaseTPMTE Thrombospondin THBS1 G Thromboxane A synthase 1 TBXAS1 Thromboxane A2 TXA2 <BR> <BR> Thromboxane A2 receptor TBXA2R Thymopoietin TMPO G Thymosin I <BR> <BR> Thyroglobulin TG G Thyroid hormone receptor, alpha THRA G Thyroid hormone receptor, beta THRB G Thyroid peroxidase TPO G Thyroid receptor auxiliary protein TRAP G Thyroid-stimulating hormone receptor TSHR G Thyroid-stimulating hormone, alpha TSHA G Thyroid-stimulating hormone, beta TSHB G Thyrotropin releasing hormone TRH G Thyrotropin releasing hormone receptor TRHR G Thyroxin-bindingglobulin TBG T <BR> <BR> Transacylase E Transcobalamin 2, TCN2 TCN2 T Transcription factor 1, hepatic TCF1 G Transcription factor 2, hepatic TCF2 G Transcription termination factor, RNA TTF1 G polymerase 1 Transferrin TF G Transferrin receptor TFRC G Transforming growth factor, beta 2 TGFB2 G Transforming growth factor, beta induced TGFBI G Transforming growth factor, beta receptor 2 TGFBR2 G Transketolase TKT E Transketolase-like 1 TKTL1 E Transthyretin TTR T Tubby-like protein 1 TULP1 G Tuberous sclerosis 1 TSC1 G Tuberous sclerosis 2 TSC2 G Tyrosinase TYR E Tyrosinase-related protein 1 TYRP1 E Tyrosine aminotransferase TAT E Tyrosine hydroxylase TH E Ubiquitin activating enzyme, E1 E Ubiquitin protein ligase E3A UBE3A E UDP-giucose pyrophosphorylase E UDP-glucuronosyltransferase 1 ugt1 d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Uncoupfing protein 1 T Uncoupling protein 3 UCP3 T Urate oxidase UOX E <BR> <BR> UreidopropionaseE Uridine monophosphate kinaseUMPK) Uridine monophosphate synthetaseUMPS) Uridinediphosphate(UDP)-gaiactose-4-GALEE epimerase Uroporphyrinogen decarboxytaseURODE <BR> <BR> UterogiobinUGBT Vasoactive intestinal polypeptide VIP N Vasoactive intestinal polypeptide receptor VIPR N Vasoinhibitory peptide G Von Hippel-Lindau gene VHL G Werner syndrome helicase WRN G Wolfram syndrome 1 gene WFS1 S Xylitoldehydrogenase E In a fifteenth aspect.

HEADACHE The present invention relates to a method of assessing the risk of developing the symptoms of a headache, the causes of which are numerous-including; migraine, trauma, infection, psychiatric conditions and the use of drugs and toxins or as adverse events following the use of drugs (Walton, 1993, Lishman, 1997, Brody. Lamer and Minneman 1998).

By far the most common causes of headache and other neurology are various forms of psychogenic and tension headaches and migraine (Lishman, 1997, Ferrari, 1998).

Even in neurological clinics less than 5% of headaches are due to serious intracranial structural disease and most of these have additional and obvious neurological features.

It is difficult to assess the prevalence of headache sufferers as many patients will not consult a physician. An estimation of the prevalence of migraine indicates it is remarkably high across western countries, with about 20% of the population suffering at some time in their lives. 5% of the population have at least 18 migraine days per year and 1% at least one day per week. The annual cost of migraine-related lost productivity is enormous.

Classical migraine typically involves visual symptoms such as'dazzles'or'blind patches'spreading across the vision of one or both eyes. The headache normally starts as the neurological symptoms resolve. It is often severe lasting hours or rarely days, and may be accompanied by nausea or vomiting. Photophobia, facial pallor, intolerance to certain odours, irritability, mild confusion and anorexia are common.

Symptoms of an attack vary enormously but whatever combination of symtoms an individual has an migraine episode is obviously very distressing and debilitating to the sufferer (Ferrari, 1998).

Headaches can be an unwanted side effect of therapeutic drugs, e. g. following treatment with phoshodiesterase 5 inhibitors (ViagraTM), tri-cyclic antidepressants, indomethacin and nifedipine.

Treatment for headaches are primarily in the form of oral treatments but the particular drug used varies widely according to the cause of the headache. Treatment of a tension headache may also include stress avoidance or relaxation programmes together with mild analgesics or mild tranquilizers (e. g diazepam). Acute antimigraine drugs include the ergot alkaloids (ergotamine and dihydroergotamine), sumatriptan, and other'second generation'triptans (Ferrari, 1998, Brody, Lamer and Minneman, 1998).

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION HEADACHE GENE LIST HUGO symbol Protein function Acetyicholinesterase ACHE E Adenylate cyciase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenyiate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGT E Arginase ARG 1 E Arginine vasopressin AVP N Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Calcitonin/Calcitonin gene-related peptide CALCA N alpha Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1 C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, A)pha-CACNA1EN 1E (CACNL1A6) Calcium channe!,voitage-dependent,A!pha-CACNA2N 2/delta voltage-dependent,Beta1CACNB1NCalciumchannel, Calcium channel, voltage-dependent, Beta 3CACNB3N <BR> <BR> Caiciumchanne!,vottage-dependent,CACNG2N Neuronal, Gamma Calcium channe!,voitage-dependent,P/QCACNA1AN type, alpha 1A subunit <BR> <BR> Ca!dumchanne),vottage-dependent,T-typeN Calnexin CANX G Cannabinoid receptor CNR1 N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E Catechol-O-methyltransferase COMT E Choline acetyltransferase CHAT E Cyclic AMP-dependent protein kinase PKA E phosphodiesterase1BPDE1BECyclicnucleotide Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E <BR> <BR> Cyclic nucleotide phosphodiesterase 4C PDE4C E Cyclic nucleotide phosphodiesterase 5A PDE5A E Cyclic nucleotide phosphodiesterase 6A PDE6A E Cyclic nucleotide phosphodiesterase 6B PDE6B E Cyclic nucleotide phosphodiesterase 7 PDE7 E Cyclic nucleotide phosphodiesterase 8 PDE8 E Cyclic nucleotide phosphodiesterase 9A PDE9A E Cyclooxygenase 1 COX1 E Cyclooxygenase 2 COX2 E <BR> <BR> CYP11A1 CYP11A1 E<BR> <BR> <BR> <BR> <BR> CYP11B1 CYP11B1 E<BR> <BR> <BR> <BR> CYP11 B2 CYP11 B2 E<BR> <BR> <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> CYP19 CYP19 E<BR> <BR> <BR> <BR> <BR> CYP1A1 CYP1A1 E<BR> <BR> <BR> <BR> CYP1A2 CYP1A2 E<BR> <BR> <BR> <BR> <BR> CYP1 B1 CYP1 B1 E CYP21 CYP21 E CYP24 CYP24 E <BR> <BR> CYP27CYP27E<BR> <BR> <BR> <BR> <BR> CYP27B1 PDDR E CYP2A1CYP2A1 CYP2A13 CYP2A13 E<BR> <BR> <BR> <BR> CYP2A3CYP2A3E CYP2A6V2 CYP2A6V2 E <BR> <BR> CYP2A7CYP2A7E<BR> <BR> <BR> <BR> <BR> CYP2B6CYP2B6E<BR> <BR> <BR> <BR> CYP2C18CYP2C18E<BR> <BR> <BR> <BR> <BR> CYP2C19CYP2C19E CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1CYP2E1E<BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E <BR> <BR> CYP4A11 CYP4A11 E ECYP4B1CYP4B1 CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E<BR> <BR> <BR> <BR> <BR> CYP5A1 CYP5A1 E CYP7A CYP7A E CYP8 CYP8 E Cystathionase CTH E Cystathione beta synthase CBS E Cytidine deaminase CDA E Cytidine-5-prime-triphosphate synthetase CTPS E Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCO E Cytokine-suppressive antiinflammatory drug-CSBP1 binding protein 1 <BR> <BR> Cytokine-suppressive antiinflammatory drug-CSBP2 I binding protein 2 Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N <BR> <BR> Dystonia 9 CSE S Endothelin 1 EDN1 N Endothelin2 EDN2 N Endothelin3 EDN3 N Endothelin converting NECE1 Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> EnotaseEN01E Epidermal growth factor EGF G <BR> <BR> Epidermal growth factor receptor EGFR G Erythropoietin receptorEPOR) <BR> <BR> GtutathioneGSHT Glutathione S-transferase, GSTZ1GSTZ1E Glyceraldehyde-3-phosphate dehydrogenase, GAPDHE GAPDH Glycerol kinaseGKE Glycinamide ribonucleotide (GAR) GART E transformylase Hexosaminidase B HEXB E Histamine receptors, H1 N Histamine receptors, H2 N Histamine receptors, H3 N Hypoxia inducible factor 1 HIF1A E Hypoxia inducible factor 2 E Insulin INS G Insulin receptor INSR G Interleukin (IL) 1, alpha IL1A I Interleukin (IL) 1, beta ILLB I Interleukin (IL) receptor antagonist 1 IL1 RN, IL1 RA I <BR> <BR> IP3 kinase E Marenostrin MEFV T <BR> <BR> Methylmalonyl-CoA mutase MUT E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, NCHRM1 Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N Myogenic factor 3 MYF3 G Myogenic factor 4 MYF4 G Myogenic factor 5 MYF5 G NADHdehydrogenase E <BR> <BR> NADPH-dependent cytochrome P450 POR E reductase NeurokininA NKNA N Neurokinin B NKNB N Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E PhospholipasePhospholipaseA2, group IPLA2G10 Phospholipase A2, group 1 BPLA2G1B <BR> <BR> Phospholipase A2, group 2A PLA2G2A Phospholipase A2, group 2B PLA2G2B Phospholipase A2, group 4A PLA2G4A Phospholipase A2, group 4CPLA2G4C Phospholipase A2, group 5PLA2G5 Phospholipase A2, group 6PLA2G6 Phosphotipase C alpha Phosphoiipase C beta Phospholipase C delta PLCD1 Phosphofipase C epsilon Phospholipase C gamma PLCG1 Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium voltage-gated channe!E1KCNE1N Potassium voltage-gated channel Q1 KCNQ1 N Proopiomelanocortin POMC N RIGUI RIGUI G Serotonin receptor, 5HT1AHTR1A N Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1C HTR1C N Serotonin receptor, 5HT1 DHTR1 D N Serotonin receptor, 5HT1 EHTR1 E N Serotonin receptor, 5HT1F HTR1F N Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage-gated, type 1, beta SCN1 B N polypeptide Solute carrier family 5, member 3 SLC5A3 T Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Substance P N Tyrosine hydroxylase TH E UDP-glucuronosyltransferase 1 ugt1 d, UGT1 E UDP-glucuronosyltransferase 2 UGT2 E Vasoactive intestinal polypeptide VIP N Vasoactive intestina!potypeptidereceptorV!PRN In a sixteenth aspect.

SEXUAL DYSFUNCTION The present invention relates to a method of assessing the risk of developing the symptoms of sexual dysfunction in women and men and impotence or erectile dysfunction in men. Sexual dysfuntion is a common consequence of psychiatric or neuropsychiatric disorders or following traumatic brain injury, ischaemic brain damage or stroke or systemic diseases (such as cardiovascular disease) or following psychological or social stress.

Sexual dysfunction arises in a significant majority of cases as a result of a recognisable physical or physiological condition. Causes include, dysfunctional reglation of the vasculaure, diabetes, peripheral neuropathy, peyronies disease, prostate disease and neurological lesions (such as those following spinal cord trauma.

However, it is also of importance to note that sexual dysfunction is commonly observed as a consequence of individuals experiencing psychological or social stress following difficulties in their interpersonal relationships, work relationships or other concerns resulting from their social or economic circumstances.

Sexual dysfuction is also a common adverse event folloing standard therapeutic practices and is a known adverse event followin treatments with anti-depressants, anti- convulsants, anti-psychotics, cholinomimetics, sympathomimetic and sympatholytics (Brody, Lamer and Minneman 1998).

The symptoms of sexual dysfunction are a cause of significant anxiety and stress in patients or persons suffering from them. The problem of sexual dysfunction is a large one with an estimated 20 million Americamn males suffering from some aspect of sexual difficulties.

Such symptoms lead to difficulties in the clinical care of patients, difficulties in the treatment and recovery of patients and lead to stress and anxiety in their carers and families.

Treatment of sexual dysfunction has traditionally been via hormone replacement or supplementation, urethral suppositories, penile injections or implant surgery. Recently oral treatments such as phosphodiesterase 5 inhibitors have also become available (e. g. ViagraTM from Pfizer).

There is as yet no clear explanation as to why sexual dysfunction should affect some and not others or why some suffer from sexual dysfuntion as a result of therapeutic intervenion wheras others do not. The biology underpinning the appearance of sexual dysfunction is uncertain and its genetic background unknown (OMIM Database 1998).

The uncertainties surrounding sexual dysfunction have been heightened in recent months following the availability of oral treatments for the problem and the realisation that these treatments are not 100% effective in the whole population.

It is presumed that a similar (although perhaps less extreme) physiology underlies the expression of the symptoms of sexual dysfunction in persons who experience these difficulties without the background of a diagnosable disease or psychiatric condition.

Although little is known concerning the pathophysiology of sexual dysfunction it has been observed that there is considerable inter-personal variation in the likelihood, threshold and magnitude of sexual dysfunction even in persons suffering from the same clinical condition or experiencing the same social or economic conditions (Lishman 1997).

We have elaborated on the value and utility to be derived from the gathering together of the genes which form the core gene list for this particular Genostic system.

These genes are elaborated below: KEY TO'PROTEIN FUNCTION'COLUMN E ENZYME T TRANSPORT & STORAGE S STRUCTURAL I IMMUNITY N NERVOUS TRANSMISSION G GROWTH & DIFFERENTIATION SEXUAL DYSFUNCTION GENE LIST HUGO symbol Protein function 11 beta hydroxysteroid dehydrogenase 2 HSD11 B2 E Acetylcholinesterase ACHE E Activin G Adenylate cyclase 1 ADCY1 E Adenylate cyclase 2 ADCY2 E Adenylate cyclase 3 ADCY3 E Adenylate cyclase 4 ADCY4 E Adenylate cyclase 5 ADCY5 E Adenylate cyclase 6 ADCY6 E Adenylate cyclase 7 ADCY7 E Adenylate cyclase 8 ADCY8 E Adenylate cyclase 9 ADCY9 E Adrenergic receptor, alpha1 ADRA1 N Adrenergic receptor, alpha2 ADRA2 N Adrenergic receptor, beta1 ADRB1 N Adrenergic receptor, beta2 ADRB2 N Adrenergic receptor, beta3 ADRB3 N Adrenoleukodystrophy gene ALD E alpha thalassemia gene ATRX N Androgen binding protein ABP T Angiopoietin 1 ANGPT1 G Angiopoietin 2 ANGPT2 G Angiotensin converting enzyme ACE, DCP1 E Angiotensin receptor 1 AGTR1 T Angiotensin receptor 2 AGTR2 T Angiotensinogen AGTE Anti-Mullerian hormone AMH G Anti-Mullerian hormone type 2 receptor AMHR2 G Arginase ARG1E Arginine vasopressin AVPN Arginine vasopressin receptor 1A AVPR1A N Arginine vasopressin receptor 1 B AVPR1 B N Arginine vasopressin receptor 2 AVPR2 N Atrial natriuretic peptide ANP G Atrial natriuretic peptide receptor A NPR1 G Atrial natriuretic peptide receptor B NPR2 G Atrial natriuretic peptide receptor C NPR3 G Autoimmune regulator, AIRE AIRE I BCL2-associated X protein BAX G Bloom syndrome protein BLM G Calcium channel, voltage-dependent, alpha 1 F CACNA1 F N subunit Calcium channel, voltage-dependent, Alpha-CACNA1 B N 1B (CACNL1A5) Calcium channel, voltage-dependent, Alpha-CACNA1 C N 1C Calcium channel, voltage-dependent, Alpha-CACNA1 D N 1D Calcium channel, voltage-dependent, Alpha-CACNA1 E N 1E (CACNL1A6) Calcium channel, voltage-dependent, Alpha-CACNA2 N 2/delta Calcium channel, voltage-dependent, Beta 1 CACNB1 N Calcium channel, voltage-dependent, Beta 3 CACNB3 N Calcium channel, voltage-dependent, CACNG2 N Neuronal, Gamma Calcium channel, voltage-dependent, T-type N Carbonic anhydrase 3 CA3 E Carbonic anhydrase 4 CA4 E Carbonic anhydrase, alpha CA1 E Carbonic anhydrase, beta CA2 E <BR> <BR> Catechol-O-methyltransferase COMT E Choline acetyltransferase CHAT E Cyclic AMP response element modulator CREM G Cyclic AMP-dependent protein kinase PKA E Cyclic nucieotide phosphodiesterase 1B PDE1B E Cyclic nucleotide phosphodiesterase 1B1 PDE1B1 E Cyclic nucleotide phosphodiesterase 2A3 PDE2A3 E Cyclic nucleotide phosphodiesterase 3A PDE3A E Cyclic nucleotide phosphodiesterase 3B PDE3B E Cyclic nucleotide phosphodiesterase 4A PDE4A E Cyclic nucleotide phosphodiesterase 4C PDE4CE Cyclic nucleotide phosphodiesterase 5A PDE5AE Cyclic nucleotide phosphodiesterase 6A PDE6AE Cyclic nucleotide phosphodiesterase 6B PDE6BE Cyclic nucleotide phosphodiesterase 7 PDE7E Cyclic nucleotide phosphodiesterase 8 PDE8E Cyclic nucleotide phosphodiesterase 9A PDE9AE <BR> <BR> Cyclooxygenase1COX1E<BR> <BR> <BR> <BR> <BR> Cyclooxygenase2COX2E<BR> <BR> <BR> <BR> CYP11A1 CYP11A1 E ECYP11B1CYP11B1 <BR> <BR> CYP11B2 CYP11B2 E<BR> <BR> <BR> <BR> <BR> CYP17 CYP17 E<BR> <BR> <BR> <BR> CYP19CYP19E ECYP1A1CYP1A1 <BR> <BR> CYP1A2 CYP1A2 E<BR> <BR> <BR> <BR> <BR> CYP1B1CYP1B1E CYP21 CYP21 E CYP24 CYP24 E CYP27 CYP27 E <BR> <BR> CYP27B1 PDDR E<BR> <BR> <BR> <BR> CYP2A1 CYP2A1 E ECYP2A13CYP2A13 CYP2A3 CYP2A3 E CYP2A6V2 CYP2A6V2 E CYP2A7 CYP2A7 E CYP2B6 CYP2B6 E ECYP2C18CYP2C18 ECYP2C19CYP2C19 CYP2C8 CYP2C8 E CYP2C9 CYP2C9 E CYP2D6 CYP2D6 E <BR> <BR> CYP2E1 CYP2E1 E<BR> <BR> <BR> <BR> CYP2F1 CYP2F1 E CYP2J2 CYP2J2 E CYP3A3 CYP3A3 E CYP3A4 CYP3A4 E CYP3A5 CYP3A5 E CYP3A7 CYP3A7 E ECYP4A11CYP4A11 <BR> <BR> CYP4B1 CYP4B1 E CYP4F2 CYP4F2 E CYP4F3 CYP4F3 E <BR> <BR> CYP51 CYP51 E ECYP5A1CYP5A1 <BR> <BR> CYP7ACYP7AE<BR> <BR> <BR> <BR> CYP8CYP8E CystathionaseCTH Cystathione beta synthase CBS E Cytidine deaminaseCDAE Cytidine-5-prime-triphosphate synthetaseCTPSE Cytochrome a E Cytochrome c E Cytochrome c oxidase, MTCOE Cytokine-suppressive antiinflammatory drug-CSBP1j binding protein 1 Cytokine-suppressive antiinfiammatorydrug-CSBP2t binding protein 2 DAX1 nuclear receptorDAX1j Deleted in azoospermia DAZ G Diaphanous 2 DIAPH2 N Disrupted meiotic cDNA 1, homolog DMC1 G Dopamine beta hydroxylase DBH E Dopamine receptors D1 DRD1 N Dopamine receptors D2 DRD2 N Dopamine receptors D3 DRD3 N Dopamine receptors D4 DRD4 N Dopamine receptors D5 DRD5 N Electron-transfering-flavoprotein alpha ETFA T Electron-transfering-flavoprotein beta ETFB T <BR> <BR> Electron-transferring flavoprotein ETFDH E dehydrogenase Endometrial bleeding-associated factor EBAF G Endothelin 1 EDN1 N Endothelin 2 EDN2 N Endothelin 3 EDN3 N Endothelin converting enzyme ECE1 N Endothelin receptor type A EDNRA N Endothelin receptor type B EDNRB N <BR> <BR> Enolase EN01 E Enoyl CoA isomerase E Enterokinase PRSS7, ENTK E Epidermal growth factor EGF G Epidermal growth factor receptor EGFR G Faciogenital dysplasia FGD1, FGDY T <BR> <BR> Factor XIII A & B F13A & F13B I Fanconi anemia, complementation group A FANCA T Fertilin protein FTNB G <BR> <BR> Flightless-II, Drosophila homolog of FLII G<BR> <BR> <BR> <BR> Folic acid receptor FOLR G Glutathione GSH T Glutathione S-transferase, GSTZ1 GSTZ1 E <BR> <BR> Glyceraldehyde-3-phosphate dehydrogenase, GAPDH E GAPDH Glycerol kinase GK E Glycinamide ribonucleotide (GAR) GART E transformylase Glycogen phosphorylase PYGL E Gonadotropin releasing hormone GNRH G Gonadotropin releasing hormone receptor GNRHR G Guanine nucleotide-binding protein, alpha GNAI1 N inhibiting activity polypeptide 1, GNAJ1 Guanine nucleotide-binding protein, alpha GNAI2 N inhibiting activity polypeptide 2, GNAI2 Guanine nucleotide-binding protein, alpha GNAI3 N inhibiting activity polypeptide 3, GNA13 Hexosaminidase B HEXB E Holoprosencephaly 1 HPE1 G Holoprosencephaly 2 HPE2 G Holoprosencephaly 3 HPE3 G Holoprosencephaly 4 HPE4 G Human placental lactogen CSH1 G <BR> <BR> Inhibin,alpha INHA G<BR> <BR> <BR> <BR> Inhibin, beta A INHBA G Inhibin, beta B INHBB G lnhibin, beta C INHBC G Insulin INS G Insulin receptor INSR G IP3 kinase E Kallman syndrome gene 1 KAL1 G Laminin 5, alpha 3 LAMA3 G Laminin 5, beta 3 LAMB3 G Laminin receptor 1LAMR1G Long QT-type 2 potassium channels LQT2, KCNH2 T Luteinizing hormone, beta chain LHB G MAD (mothers against decapentaplegic, MADH2 G Drosophila) homologue 2 <BR> <BR> Methylmalonyl-CoA mutase MUT E Monoamine oxidase A MAOA E Monoamine oxidase B MAOB E Muscarinic receptor, M1 CHRM1 N Muscarinic receptor, M2 CHRM2 N Muscarinic receptor, M3 CHRM3 N Muscarinic receptor, M4 CHRM4 N Muscarinic receptor, M5 CHRM5 N <BR> <BR> NADPH-dependent cytochrome P450 POR E reductase Neuropeptide Y NPY N Neuropeptide Y receptor Y1 NPY1 R N Neuropeptide Y receptor Y2 NPY2R N Nitric oxide synthase 1, NOS1 NOS1 E Nitric oxide synthase 2, NOS2 NOS2 E Nitric oxide synthase 3, NOS3 NOS3 E Oncogene ELK1 ELK1 G Oncogene ELK2 ELK2 G Paired box homeotic gene 3 PAX3 G Patched (Drosophila) homolog, PTCH PTCH G Potassium inwardly-rectifying channel J1 KCNJ1 N Potassium inwardly-rectifying channel J11 KCNJ11 N Potassium voltage-gated channel A1 KCNA1 N Potassium voltage-gated channel E1 KCNE1 N Potassium voltage-gated channel Q1 KCNQ1 N Potassium voltage-gated channel Q2 KCNQ2 N Potassium voltage-gated channel Q3 KCNQ3 N Progesterone receptor (RU486 binding PGR G receptor) Proopiomelanocortin POMC N Prostasin, PRSS8 PRSS8 E Ribosomal protein S4, X-linked RPS4X E <BR> <BR> RIGUI RIGUI G Serotonin receptor, NHTR1A Serotonin receptor, 5HT1 B HTR1 B N Serotonin receptor, 5HT1 C HTR1 C N Serotonin receptor, 5HT1 D HTR1 D N Serotonim receptor, NHTR1E Serotonin receptor, NHTR1F Serotonin receptor, 5HT2A HTR2A N Serotonin receptor, 5HT2B HTR2B N Serotonin receptor, 5HT2C HTR2C N Serotonin receptor, 5HT3 HTR3 N Serotonin receptor, 5HT4 HTR4 N Serotonin receptor, 5HT5 HTR5 N Serotonin receptor, 5HT6 HTR6 N Serotonin receptor, 5HT7 HTR7 N Sodium channel, non-voltage gated 1, alpha; SCNN1A N Sodium channel, non-voltage gated 1, beta SCNN1B N Sodium channel, non-voltage gated 1, gamma SCNN1G N Sodium channel, voltage gated, type V, alpha SCN5A N polypeptide Sodium channel, voltage-gated, type 1, beta SCN1B N polypeptide Solute carrier family 6 (GAMMA-SLC6A1 T AMINOBUTYRIC ACID transporter), member 1 Solute carrier family 6 (neurotransmitter SLC6A3 T transporter, dopamine), member 3 Solute carrier family 6 (neurotransmitter SLC6A2 T transporter, noradrenaline), member 2 Sperm protamine P1 PRM1 G Sperm protamine P2 PRM2 G T-BOX 3 TBX3 G Testis-specific protein Y TSPY G Tyrosine hydroxylase TH E UDP-glucuronosyltransferase 1 ugt1d, UGT1 E<BR> <BR> <BR> <BR> UDP-g)ucuronosy!transferase2UGT2E Vasoactive intestinal potypeptideV)PN Vasoactive intestina!potypeptidereceptorV!PRN Zona pellucida glycoprotein 1 ZP1 G Zona pellucida glycoprotein 2 ZP2 G Zona pellucida glycoprotein 3 ZP3 G Zona pellucida receptor tyrosine 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