Name

TONSL-AS1 Gene

TONSL antisense RNA 1

TOM1L2 Gene

target of myb1-like 2 (chicken)

TOMM40 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)

TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008]

TOB2 Gene

transducer of ERBB2, 2

TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

TOMM40L Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)-like

TOMM6 Gene

translocase of outer mitochondrial membrane 6 homolog (yeast)

TOMM7 Gene

translocase of outer mitochondrial membrane 7 homolog (yeast)

This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]

TOMM5 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast)

TOP3BP1 Gene

topoisomerase (DNA) III beta pseudogene 1

This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

TOPORS Gene

topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase

This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

TOB1-AS1 Gene

TOB1 antisense RNA 1

TOPORS-AS1 Gene

TOPORS antisense RNA 1

TOR2A Gene

torsin family 2, member A

This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]

TOPORSLP Gene

topoisomerase I binding, arginine/serine-rich like, pseudogene

TOMM20 Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)

TOMM22 Gene

translocase of outer mitochondrial membrane 22 homolog (yeast)

The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]

TOP2B Gene

topoisomerase (DNA) II beta 180kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq, Jul 2008]

TOP2A Gene

topoisomerase (DNA) II alpha 170kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]

TOMM22P2 Gene

TOMM22 pseudogene 2

TOMM20P2 Gene

TOMM20 pseudogene 2

TOMM20P4 Gene

TOMM20 pseudogene 4

TOR1A Gene

torsin family 1, member A (torsin A)

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]

TOR1B Gene

torsin family 1, member B (torsin B)

TOMM70A Gene

translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)

This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]

TOB1 Gene

transducer of ERBB2, 1

This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

TOP1P1 Gene

topoisomerase (DNA) I pseudogene 1

TOP1P2 Gene

topoisomerase (DNA) I pseudogene 2

TOLLIP-AS1 Gene

TOLLIP antisense RNA 1 (head to head)

TOB2P1 Gene

transducer of ERBB2, 2 pseudogene 1

TOMM20L Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)-like

TOR4A Gene

torsin family 4, member A

TOM1L1 Gene

target of myb1 (chicken)-like 1

TOP1MT Gene

topoisomerase (DNA) I, mitochondrial

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

TOLLIP Gene

toll interacting protein

This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. [provided by RefSeq, Aug 2011]

TOR3A Gene

torsin family 3, member A

TOMM34 Gene

translocase of outer mitochondrial membrane 34

The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]

TOP3A Gene

topoisomerase (DNA) III alpha

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008]

TOP3B Gene

topoisomerase (DNA) III beta

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

TOX Gene

thymocyte selection-associated high mobility group box

The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]

TOM1 Gene

target of myb1 (chicken)

This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

TOPBP1 Gene

topoisomerase (DNA) II binding protein 1

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]

TOE1 Gene

target of EGR1, member 1 (nuclear)

TOX4 Gene

TOX high mobility group box family member 4

TOX3 Gene

TOX high mobility group box family member 3

The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

TOX2 Gene

TOX high mobility group box family member 2

TOR1AIP2 Gene

torsin A interacting protein 2

TOR1AIP1 Gene

torsin A interacting protein 1

This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

TOP1 Gene

topoisomerase (DNA) I

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]

TOMM22P1 Gene

TOMM22 pseudogene 1

TOMM22P3 Gene

TOMM22 pseudogene 3

TOMM22P5 Gene

TOMM22 pseudogene 5

TOMM22P4 Gene

TOMM22 pseudogene 4

TOMM22P6 Gene

TOMM22 pseudogene 6

TONSL Gene

tonsoku-like, DNA repair protein

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

TOX4P1 Gene

TOX high mobility group box family member 4 pseudogene 1

BMIQ7 Gene

Obesity, susceptibility to, on chromosome 4

ASPG2 Gene

Asperger syndrome, susceptibility to, 2

ASPG3 Gene

Asperger syndrome, susceptibility to, 3

ASPG4 Gene

Asperger syndrome, susceptibility to, 4

ATOD7 Gene

Dermatitis, atopic, susceptibility to, 7

ENDO1 Gene

Endometriosis, susceptibility to, 1

HYT3 Gene

Hypertension, essential, susceptibility to, 3

HYT5 Gene

Hypertension, essential, susceptibility to, 5

HYT4 Gene

Hypertension, essential, susceptibility to, 4

HYT7 Gene

Hypertension, essential, susceptibility to, 7

HYT6 Gene

Hypertension, essential, susceptibility to, 6

HYT8 Gene

hypertension, essential, susceptibility to, 8

MGR7 Gene

Migraine with aura, susceptibility to, 7

MGR9 Gene

Migraine with aura, susceptibility to, 9

GRD2 Gene

Graves disease, susceptibility to, 2

GRDX Gene

Graves disease, susceptibility to, X-linked

EIG4 Gene

Epilepsy, idiopathic generalized, susceptibility to 4

PRAC2 Gene

prostate cancer susceptibility candidate 2

This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

PRAC1 Gene

prostate cancer susceptibility candidate 1

This gene is reported to be specifically expressed in prostate, rectum and distal colon. Sequence analysis suggests that it may play a regulatory role in the nucleus. [provided by RefSeq, Jul 2008]

SS3 Gene

Sarcoidosis, susceptibility to, 3

BMIQ10 Gene

Obesity, susceptibility to, on chromosome 10q

PSORS9 Gene

psoriasis susceptibility 9

PSORS8 Gene

psoriasis susceptibility 8

PSORS7 Gene

psoriasis susceptibility 7

PSORS6 Gene

psoriasis susceptibility 6

PSORS5 Gene

psoriasis susceptibility 5

PSORS4 Gene

psoriasis susceptibility 4

PSORS3 Gene

psoriasis susceptibility 3

NKS1 Gene

natural killer cell susceptibility 1

CELIAC8 Gene

Celiac disease, susceptibility to, 8

CELIAC5 Gene

Celiac disease, susceptibility to, 5

CELIAC6 Gene

Celiac disease, susceptibility to, 6

CELIAC7 Gene

Celiac disease, susceptibility to, 7

AIS3 Gene

autoimmune susceptibility 3 (vitiligo specific)

AIS2 Gene

autoimmune susceptibility 2

AIS1 Gene

autoimmune susceptibility 1

AIS4 Gene

autoimmune disease, susceptibility to, 4

SLEB13 Gene

Systemic lupus erythematosus, susceptibility to, 13

SLEB12 Gene

Systemic lupus erythematosus, susceptibility to, 12

SLEB15 Gene

Systemic lupus erthematosus, susceptibility to, 15

CIHL Gene

hearing loss, cisplatin-induced, susceptibility to

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

OS4 Gene

Osteoarthritis, generalized, without dysplasia, susceptibility to

OS6 Gene

Osteoarthritis susceptibility 6

CASC4P1 Gene

cancer susceptibility candidate 4 pseudogene 1

BCC5 Gene

Basal cell carcinoma, susceptibility to, 5

NBLST5 Gene

Neuroblastoma, susceptibility to, 5

NBLST4 Gene

Neuroblastoma, susceptibility to, 4

NBLST6 Gene

Neuroblastoma, susceptibility to, 6

MAFD9 Gene

Major affective disorder-9, susceptibility to

MAFD8 Gene

Major affective disorder-8, susceptibility to

IGAN2 Gene

IgA nephropathy, susceptibility to, 2

AUTS6 Gene

Autism, susceptibility to, 6

AUTS7 Gene

Autism, susceptibility to, 7

AUTS5 Gene

Autism, susceptibility to, 5

AUTS2 Gene

autism susceptibility candidate 2

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

AUTS3 Gene

Autism, susceptibility to, 3

AUTS1 Gene

Autism, susceptibility to, 1

AUTS8 Gene

Autism, susceptibility to, 8

EIG3 Gene

Epilepsy, idiopathic generalized, susceptibility to 3

EIG2 Gene

Epilepsy, idiopathic generalized, susceptibility to 2

CASC2 Gene

cancer susceptibility candidate 2 (non-protein coding)

CASC1 Gene

cancer susceptibility candidate 1

CASC6 Gene

cancer susceptibility candidate 6 (non-protein coding)

CASC5 Gene

cancer susceptibility candidate 5

The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]

CASC4 Gene

cancer susceptibility candidate 4

The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

CASC8 Gene

cancer susceptibility candidate 8 (non-protein coding)

HYT1 Gene

Hypertension, essential, susceptibility to, 1

HYT2 Gene

Hypertension, essential, susceptibility to, 2

BCC6 Gene

Basal cell carcinoma, susceptibility to, 6

CASC18 Gene

cancer susceptibility candidate 18 (non-protein coding)

ADHD2 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 2

CLLS1 Gene

Leukemia, chronic lymphocytic, susceptibility to, 1

LOC101930332 Gene

autism susceptibility gene 2 protein-like

ASRT8 Gene

Asthma-related traits, susceptibility to, 8

OVCAS1 Gene

Ovarian cancer, epithelial, susceptibility to

OMS Gene

otitis media, susceptibility to

EIG5 Gene

Epilepsy, idiopathic generalized, susceptibility to, 5

KAZA1 Gene

Kala-azar (visceral leishmaniasis), susceptibility to

KAZA2 Gene

Kala-azar, susceptibility to, 2

KAZA3 Gene

Kala-azar, susceptibility to, 3

DYX5 Gene

dyslexia susceptibility 5

PSORS1C1 Gene

psoriasis susceptibility 1 candidate 1

This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]

PSORS1C3 Gene

psoriasis susceptibility 1 candidate 3 (non-protein coding)

PSORS1C2 Gene

psoriasis susceptibility 1 candidate 2

AUTS11 Gene

Autism, susceptibility to, 11

AUTS12 Gene

autism, susceptibility to, 12

AUTS13 Gene

autism, susceptibility to, 13

HPC6 Gene

Prostate cancer, susceptibility to

MTBS3 Gene

Mycobacterium tuberculosis, susceptibility to, 3

MTBS2 Gene

Mycobacterium tuberculosis, susceptibility to, 2

MTBS1 Gene

mycobacterium tuberculosis, susceptibility to infection by, 1

MTBSX Gene

Mycobacterium tuberculosis, susceptibility to infection by

CASC3 Gene

cancer susceptibility candidate 3

The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]

CASC7 Gene

cancer susceptibility candidate 7 (non-protein coding)

CASC9 Gene

cancer susceptibility candidate 9 (non-protein coding)

CHDS4 Gene

Coronary heart disease, susceptibility to, 4

CLLS3 Gene

Leukemia, chronic lymphocytic, susceptibility to, 3

CASC11 Gene

cancer susceptibility candidate 11 (non-protein coding)

CASC10 Gene

cancer susceptibility candidate 10

CASC17 Gene

cancer susceptibility candidate 17 (non-protein coding)

CASC16 Gene

cancer susceptibility candidate 16 (non-protein coding)

CASC15 Gene

cancer susceptibility candidate 15 (non-protein coding)

CASC19 Gene

cancer susceptibility candidate 19 (non-protein coding)

ADHD4 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 4

ADHD5 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 5

ADHD6 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 6

ADHD1 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 1

ADHD3 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 2

ASOBS Gene

Asthma and obesity susceptibility, chromosome 16p11 inversion related

BULN Gene

Bulimia nervosa, susceptibility to

ALL2 Gene

Leukemia, acute lymphoblastic, susceptibility to, 2

GLM6 Gene

Glioma susceptibility 6

GLM7 Gene

Glioma susceptibility 7

GLM5 Gene

Glioma susceptibility 5

GLM8 Gene

Glioma susceptibility 8

STBMS1 Gene

Strabismus, susceptibility to, 1

IS5 Gene

scoliosis, idiopathic, susceptibility to, 5

IS4 Gene

Scoliosis, idiopathic, susceptibility to, 4

CRCS10 Gene

Colorectal cancer, susceptibility to, 10

CRCS11 Gene

Colorectal cancer, susceptibility to, 11

NPCA2 Gene

Nasopharyngeal carcinoma, susceptibility to, 2

SM2 Gene

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

SM1 Gene

Schistosoma mansoni, susceptibility/resistance to

PDCOS Gene

Podoconiosis, susceptibility to

CTEPH1 Gene

Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to

DEL16P11.2 Gene

autism, susceptibility to, 14

BTS1 Gene

bladder tumor susceptibility 1

PTCSC1 Gene

papillary thyroid carcinoma susceptibility candidate 1 (non-protein coding)

PTCSC3 Gene

papillary thyroid carcinoma susceptibility candidate 3 (non-protein coding)

CASC23 Gene

cancer susceptibility candidate 23 (non-protein coding)

CASC22 Gene

cancer susceptibility candidate 22 (non-protein coding)

CASC20 Gene

cancer susceptibility candidate 20 (non-protein coding)

CASC21 Gene

cancer susceptibility candidate 21 (non-protein coding)

CRCS8 Gene

Colorectal cancer, susceptibility to, 8

CRCS9 Gene

colorectal cancer, susceptibility to, 9

CRCS2 Gene

Colorectal cancer, susceptibility to, 2

CRCS5 Gene

Colorectal cancer, susceptibility to, 5

MBNP Gene

?Membranous nephropathy, susceptibility to

NAFLD2 Gene

Fatty liver disease, nonalcoholic, susceptibility to, 2

ANON1 Gene

Anorexia nervosa, susceptibility to, 1

BCC4 Gene

Basal cell carcinoma, susceptibility to, 4

CMM7 Gene

Melanoma, cutaneous malignant, susceptibility to, 7

LNCR3 Gene

Lung cancer susceptibility 3

LNCR4 Gene

Lung cancer susceptibility 4

LNCR5 Gene

Lung cancer susceptibility 5

CLLS4 Gene

Leukemia, chronic lymphocytic susceptibility to, 4

AITD2 Gene

Autoimmune thyroid disease, susceptibility to, 2

AITD1 Gene

Autoimmune thyroid disease, susceptibility to, 1

AITD4 Gene

Autoimmune thyroid disease, susceptibility to, 4

ASRT6 Gene

Asthma-related traits, susceptibility to, 6

ASRT4 Gene

Asthma-related traits, susceptibility to, 4

MS3 Gene

Multiple sclerosis, susceptibility to, 3

MS2 Gene

Multiple sclerosis, susceptibility to, 2

DYX9 Gene

dyslexia susceptibility 9

DYX8 Gene

dyslexia susceptibility 8

MHS6 Gene

malignant hyperthermia susceptibility 6

MHS4 Gene

malignant hyperthermia susceptibility 4

MHS2 Gene

malignant hyperthermia susceptibility 2

MHS3 Gene

Malignant hyperthermia susceptibility 3

MGR2 Gene

Migraine, familial typical, susceptibility to

MGR3 Gene

Migraine, familial, with or without aura, susceptibility to

MGR1 Gene

Migraine with aura, susceptibility to

MGR5 Gene

Migraine with or without aura, susceptibility to, 5

MGR8 Gene

Migraine, susceptibility to, 8

TSG101 Gene

tumor susceptibility 101

The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]

HDPA Gene

Hodgkin disease, susceptibility, pseudoautosomal

ASPG1 Gene

Asperger syndrome, susceptibility to, 1

SCZD14 Gene

schizophrenia, susceptibility to, 14

SCZD11 Gene

Schizophrenia susceptibility locus, chromosome 10q-related

LOC100288160 Gene

esophagus cancer-related gene-2 interaction susceptibility protein

BCC1 Gene

Basal cell carcinoma, susceptibility to, 1

BCC2 Gene

Basal cell carcinoma, susceptibility to, 2

BCC3 Gene

Basal cell carcinoma, susceptibility to, 3

ODS1 Gene

Opioid dependence, susceptibility to, 1

PARK16 Gene

Parkinson disease 16 (susceptibility)

PARK10 Gene

Parkinson disease 10 (susceptibility)

PARK12 Gene

Parkinson disease 12 (susceptibility)

PDA1 Gene

Patent ductus arteriosus, susceptibility to

LPRS Gene

Leprosy, susceptibility to 1

CRCS6 Gene

colorectal cancer, susceptibility to, 6

MMS Gene

Malignant mesothelioma, susceptibility to

DYX1C1 Gene

dyslexia susceptibility 1 candidate 1

This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]

MGR4 Gene

Migraine, susceptibility to, 4

HSCR9 Gene

Hirschsprung disease, susceptibility to, 9

HSCR5 Gene

Hirschsprung disease, susceptibility to, 5

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008 [PubMed 17965226]). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008 [PubMed 17965226]). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see MIM 142623.[supplied by OMIM, Feb 2011]

PTCSC2 Gene

papillary thyroid carcinoma susceptibility candidate 2 (non-protein coding)

DYX1 Gene

dyslexia susceptibility 1

DYX3 Gene

dyslexia susceptibility 3

DYX4 Gene

dyslexia susceptibility 4

DYX7 Gene

dyslexia susceptibility 7

DYX6 Gene

dyslexia susceptibility 6

FL1 Gene

Follicular lymphoma, susceptibility to, 1

TGCT1 Gene

testicular germ cell tumor susceptibility 1

DELXP22.11 Gene

Autism, X-linked, susceptibility to, 4

ASRT3 Gene

Asthma-related traits, susceptibility to, 3

RLS1 Gene

Restless legs syndrome, susceptibility to

RLS6 Gene

Restless legs syndrome, susceptibility to, 6

RLS5 Gene

Restless legs syndrome, susceptibility to, 5

RLS8 Gene

Restless legs syndrome, susceptibility to, 8

CELIAC9 Gene

Celiac disease, susceptibility to, 9

ALL1 Gene

Leukemia, acute lymphocytic, susceptibility to, 1

LOAS Gene

Leber optic atrophy, susceptibility to

SLEB4 Gene

systemic lupus erythematosus, susceptibility to, 4

UVM2 Gene

Melanoma, uveal, susceptibility to, 2

UVM1 Gene

Melanoma, uveal, susceptibility to, 1

ARMS2 Gene

age-related maculopathy susceptibility 2

This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008]

ATHS Gene

atherosclerosis susceptibility (lipoprotein associated)

WM2 Gene

Macroglobulinemia, Waldenstrom, susceptibility to, 2

CMTS Gene

Chronic mountain sickness, susceptibility to

CHDS3 Gene

Coronary heart disease, susceptibility to, 3

CHDS2 Gene

Coronary heart disease, susceptibility to, 2

CHDS1 Gene

Coronary heart disease, susceptibility to, 1

CHDS8 Gene

Coronary heart disease, susceptibility to, 8

HHV8S Gene

Human herpesvirus 8, susceptibility to

IDDMX Gene

Diabetes mellitus, insulin-dependent, X-linked, susceptibility to

SLEB5 Gene

Systemic lupus erythematosus, susceptibility to, 5

SLEB8 Gene

Systemic lupus erythematosus, susceptibility to, 8

PSORS11 Gene

Psoriasis susceptibility 11

PSORS10 Gene

psoriasis susceptibility 10

SPDA3 Gene

Spondylarthropathy, susceptibility to, 3

SPDA2 Gene

Spondyloarthropathy, susceptibility to, 2

MGR12 Gene

Migraine, with or without aura, susceptibility to, 12

WM1 Gene

Macroglobulinemia, Waldenstrom, susceptibility to, 1

CRCS7 Gene

colorectal cancer, susceptibility to, 7

CELIAC12 Gene

Celiac disease, susceptibility to, 12

CELIAC13 Gene

Celiac disease, susceptibility to, 13

CELIAC10 Gene

Celiac disease, susceptibility to, 10

CELIAC11 Gene

Celiac disease, susceptibility to, 11

PVOP1 Gene

Pelvic organ prolapse, susceptibility to, 1

PVOP2 Gene

Pelvic organ prolapse, susceptibility to, 2

SLEB3 Gene

systemic lupus erythematosus susceptibility 3

SLEB7 Gene

Systemic lupus erythematosus, susceptibility to, 7