Harmonizome 3.0

solute carrier family 6 (amino acid transporter), member 14

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ets variant 3-like

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 9

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 6

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 5

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

RNA, variant U1 small nuclear 17

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 14

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 15

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 11

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 18

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 19

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

electro-encephalographic variant pattern 1

ubiquitin-conjugating enzyme E2 variant 1-like

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

platelet factor 4 variant 1

The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1-like

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

foot protein 1 variant 1-like

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

ets variant 1

This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]

ets variant 3

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ets variant 2

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule biosynthetic process. Predicted to be active in nucleus. Implicated in limb ischemia. [provided by Alliance of Genome Resources, Mar 2025]

ets variant 5

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ets variant 4

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of keratinocyte differentiation and positive regulation of transcription by RNA polymerase II. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ets variant 7

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]

ets variant 6

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 3

ubiquitin-conjugating enzyme E2 variant 1

Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]

ubiquitin-conjugating enzyme E2 variant 2

Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]

RNA, variant U1 small nuclear 20

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 3

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

Burkitt lymphoma variant rearranging region 1

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 1

RNA, variant U1 small nuclear 8

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 4

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 6

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be located in nucleus. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 7

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]

RNA, variant U1 small nuclear 1

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1-like

cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant

Enables RNA binding activity. Predicted to be involved in mRNA 3'-end processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 2

H2A.X variant histone

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]

H2A.Z variant histone 1

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]

H2A.L variant histone 3

Predicted to be a structural constituent of chromatin. Predicted to be involved in heterochromatin formation. Predicted to be located in chromosome. Predicted to be part of nucleosome. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

H2B.L histone variant 1, pseudogene

Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

H2A.Z variant histone 2

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]

H2A.B variant histone 3

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most telomeric copy. [provided by RefSeq, Oct 2015]

H2A.B variant histone 1

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the most centromeric copy which is in intron 22 of the F8 gene. [provided by RefSeq, Oct 2015]

H2B.K variant histone 1

Predicted to enable DNA binding activity and protein heterodimerization activity. Predicted to be a structural constituent of chromatin. Predicted to be located in chromosome and nucleus. Predicted to be part of nucleosome. [provided by Alliance of Genome Resources, Mar 2025]

H2A.B variant histone 2

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. [provided by RefSeq, Oct 2015]

H2B.N variant histone 1

Obesity, susceptibility to, on chromosome 4

Asperger syndrome, susceptibility to, 2

Asperger syndrome, susceptibility to, 3

Asperger syndrome, susceptibility to, 4

Dermatitis, atopic, susceptibility to, 7

Endometriosis, susceptibility to, 1

Hypertension, essential, susceptibility to, 3

Hypertension, essential, susceptibility to, 5

Hypertension, essential, susceptibility to, 4

Hypertension, essential, susceptibility to, 7

Hypertension, essential, susceptibility to, 6

hypertension, essential, susceptibility to, 8

Migraine with aura, susceptibility to, 7

Migraine with aura, susceptibility to, 9

Graves disease, susceptibility to, 2

Graves disease, susceptibility to, X-linked

Epilepsy, idiopathic generalized, susceptibility to 4

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]

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]

Sarcoidosis, susceptibility to, 3

Obesity, susceptibility to, on chromosome 10q

psoriasis susceptibility 9

psoriasis susceptibility 8

psoriasis susceptibility 7

psoriasis susceptibility 6

psoriasis susceptibility 5

psoriasis susceptibility 4

psoriasis susceptibility 3

natural killer cell susceptibility 1

Celiac disease, susceptibility to, 8

Celiac disease, susceptibility to, 5

Celiac disease, susceptibility to, 6

Celiac disease, susceptibility to, 7

autoimmune susceptibility 3 (vitiligo specific)

autoimmune susceptibility 2

autoimmune susceptibility 1

autoimmune disease, susceptibility to, 4

Systemic lupus erythematosus, susceptibility to, 13

Systemic lupus erythematosus, susceptibility to, 12

Systemic lupus erthematosus, susceptibility to, 15

hearing loss, cisplatin-induced, susceptibility to

immunoglobulin A (IgA) deficiency susceptibility 1

Osteoarthritis, generalized, without dysplasia, susceptibility to

Osteoarthritis susceptibility 6

cancer susceptibility candidate 4 pseudogene 1

Basal cell carcinoma, susceptibility to, 5

Neuroblastoma, susceptibility to, 5

Neuroblastoma, susceptibility to, 4

Neuroblastoma, susceptibility to, 6

Major affective disorder-9, susceptibility to

Major affective disorder-8, susceptibility to

IgA nephropathy, susceptibility to, 2

Autism, susceptibility to, 6

Autism, susceptibility to, 7

Autism, susceptibility to, 5

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]

Autism, susceptibility to, 3

Autism, susceptibility to, 1

Autism, susceptibility to, 8

Epilepsy, idiopathic generalized, susceptibility to 3

Epilepsy, idiopathic generalized, susceptibility to 2

cancer susceptibility candidate 2 (non-protein coding)

Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 1

Predicted to enable beta-tubulin binding activity and microtubule binding activity. Predicted to be located in cilium and microtubule cytoskeleton. Predicted to be part of axonemal dynein complex. Predicted to be active in axoneme and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 6 (non-protein coding)

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]

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]

cancer susceptibility candidate 8 (non-protein coding)

Hypertension, essential, susceptibility to, 1

Hypertension, essential, susceptibility to, 2

Basal cell carcinoma, susceptibility to, 6

cancer susceptibility candidate 18 (non-protein coding)

Attention deficit-hyperactivity disorder, susceptibility to, 2

Leukemia, chronic lymphocytic, susceptibility to, 1

autism susceptibility gene 2 protein-like

Asthma-related traits, susceptibility to, 8

Ovarian cancer, epithelial, susceptibility to

otitis media, susceptibility to

Epilepsy, idiopathic generalized, susceptibility to, 5

Kala-azar (visceral leishmaniasis), susceptibility to

Kala-azar, susceptibility to, 2

Kala-azar, susceptibility to, 3

dyslexia susceptibility 5

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]

psoriasis susceptibility 1 candidate 3 (non-protein coding)

psoriasis susceptibility 1 candidate 2

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

Autism, susceptibility to, 11

autism, susceptibility to, 12

autism, susceptibility to, 13

Prostate cancer, susceptibility to

Mycobacterium tuberculosis, susceptibility to, 3

Mycobacterium tuberculosis, susceptibility to, 2

mycobacterium tuberculosis, susceptibility to infection by, 1

Mycobacterium tuberculosis, susceptibility to infection by

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]

cancer susceptibility candidate 7 (non-protein coding)

cancer susceptibility candidate 9 (non-protein coding)

Coronary heart disease, susceptibility to, 4

Leukemia, chronic lymphocytic, susceptibility to, 3

cancer susceptibility candidate 11 (non-protein coding)

Enables chromatin-protein adaptor activity and promoter-enhancer loop anchoring activity. Involved in chromatin looping and positive regulation of transcription by RNA polymerase II. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 10

cancer susceptibility candidate 17 (non-protein coding)

cancer susceptibility candidate 16 (non-protein coding)

cancer susceptibility candidate 15 (non-protein coding)

This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]

cancer susceptibility candidate 19 (non-protein coding)

Attention deficit-hyperactivity disorder, susceptibility to, 4

Attention deficit-hyperactivity disorder, susceptibility to, 5

Attention deficit-hyperactivity disorder, susceptibility to, 6

Attention deficit-hyperactivity disorder, susceptibility to, 1

Attention deficit-hyperactivity disorder, susceptibility to, 2

Asthma and obesity susceptibility, chromosome 16p11 inversion related

Bulimia nervosa, susceptibility to

Leukemia, acute lymphoblastic, susceptibility to, 2

Glioma susceptibility 6

Glioma susceptibility 7

Glioma susceptibility 5

Glioma susceptibility 8

Strabismus, susceptibility to, 1

scoliosis, idiopathic, susceptibility to, 5

Scoliosis, idiopathic, susceptibility to, 4

Colorectal cancer, susceptibility to, 10

Colorectal cancer, susceptibility to, 11

Nasopharyngeal carcinoma, susceptibility to, 2

Hepatic fibrosis susceptibility due to Schistosoma mansoni infection

Schistosoma mansoni, susceptibility/resistance to

Podoconiosis, susceptibility to

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

autism, susceptibility to, 14

bladder tumor susceptibility 1

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

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

cancer susceptibility candidate 23 (non-protein coding)

cancer susceptibility candidate 22 (non-protein coding)

cancer susceptibility candidate 20 (non-protein coding)

cancer susceptibility candidate 21 (non-protein coding)

Colorectal cancer, susceptibility to, 8

colorectal cancer, susceptibility to, 9

Colorectal cancer, susceptibility to, 2

Colorectal cancer, susceptibility to, 5

?Membranous nephropathy, susceptibility to

Fatty liver disease, nonalcoholic, susceptibility to, 2

Anorexia nervosa, susceptibility to, 1

Basal cell carcinoma, susceptibility to, 4

Melanoma, cutaneous malignant, susceptibility to, 7

Lung cancer susceptibility 3

Lung cancer susceptibility 4

Lung cancer susceptibility 5

Leukemia, chronic lymphocytic susceptibility to, 4

Autoimmune thyroid disease, susceptibility to, 2

Autoimmune thyroid disease, susceptibility to, 1

Autoimmune thyroid disease, susceptibility to, 4

Asthma-related traits, susceptibility to, 6

Asthma-related traits, susceptibility to, 4

Multiple sclerosis, susceptibility to, 3

Multiple sclerosis, susceptibility to, 2

dyslexia susceptibility 9

dyslexia susceptibility 8

malignant hyperthermia susceptibility 6

malignant hyperthermia susceptibility 4

malignant hyperthermia susceptibility 2

Malignant hyperthermia susceptibility 3

Migraine, familial typical, susceptibility to

Migraine, familial, with or without aura, susceptibility to

Migraine with aura, susceptibility to

Migraine with or without aura, susceptibility to, 5

Migraine, susceptibility to, 8

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]

Hodgkin disease, susceptibility, pseudoautosomal

Asperger syndrome, susceptibility to, 1

schizophrenia, susceptibility to, 14

Schizophrenia susceptibility locus, chromosome 10q-related

esophagus cancer-related gene-2 interaction susceptibility protein

Basal cell carcinoma, susceptibility to, 1

Basal cell carcinoma, susceptibility to, 2

Basal cell carcinoma, susceptibility to, 3

Opioid dependence, susceptibility to, 1

Parkinson disease 16 (susceptibility)

Parkinson disease 10 (susceptibility)

Parkinson disease 12 (susceptibility)

Patent ductus arteriosus, susceptibility to

Leprosy, susceptibility to 1

colorectal cancer, susceptibility to, 6

Malignant mesothelioma, susceptibility to

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]

Migraine, susceptibility to, 4

Hirschsprung disease, susceptibility to, 9

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]

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

dyslexia susceptibility 1

dyslexia susceptibility 3

dyslexia susceptibility 4

dyslexia susceptibility 7

dyslexia susceptibility 6

Follicular lymphoma, susceptibility to, 1

testicular germ cell tumor susceptibility 1

Autism, X-linked, susceptibility to, 4

Asthma-related traits, susceptibility to, 3

Restless legs syndrome, susceptibility to

Restless legs syndrome, susceptibility to, 6

Restless legs syndrome, susceptibility to, 5

Restless legs syndrome, susceptibility to, 8

Celiac disease, susceptibility to, 9

Leukemia, acute lymphocytic, susceptibility to, 1

Leber optic atrophy, susceptibility to

systemic lupus erythematosus, susceptibility to, 4

Melanoma, uveal, susceptibility to, 2

Melanoma, uveal, susceptibility to, 1

age-related maculopathy susceptibility 2

This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]

atherosclerosis susceptibility (lipoprotein associated)

Macroglobulinemia, Waldenstrom, susceptibility to, 2

Chronic mountain sickness, susceptibility to

Coronary heart disease, susceptibility to, 3

Coronary heart disease, susceptibility to, 2

Coronary heart disease, susceptibility to, 1

Coronary heart disease, susceptibility to, 8

Human herpesvirus 8, susceptibility to

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

Systemic lupus erythematosus, susceptibility to, 5

Systemic lupus erythematosus, susceptibility to, 8

Psoriasis susceptibility 11

psoriasis susceptibility 10

Spondylarthropathy, susceptibility to, 3

Spondyloarthropathy, susceptibility to, 2

Migraine, with or without aura, susceptibility to, 12

Macroglobulinemia, Waldenstrom, susceptibility to, 1

colorectal cancer, susceptibility to, 7

Celiac disease, susceptibility to, 12

Celiac disease, susceptibility to, 13

Celiac disease, susceptibility to, 10

Celiac disease, susceptibility to, 11

Pelvic organ prolapse, susceptibility to, 1

Pelvic organ prolapse, susceptibility to, 2

systemic lupus erythematosus susceptibility 3

Systemic lupus erythematosus, susceptibility to, 7