SOX10 wt Allele

Preferred Label : SOX10 wt Allele;

NCIt synonyms : RP5-1039K5.9; PCWH; DOM; WS4; WS2E; SRY (Sex Determining Region Y)-Box 10 wt Allele; WS4C; Dominant Megacolon, Mouse, Human Homolog of Gene; SRY-Related HMG-Box Gene 10;

NCIt definition : Human SOX10 wild-type allele is located in the vicinity of 22q13.1 and is approximately 17 kb in length. This allele, which encodes transcription factor SOX-10 protein, plays a role in transcriptional activation. Mutation of the gene is associated with Waardenburg syndrome types 2E and 4C and with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.;

NCIt note : Overexpression of the SOX10 gene may be associated with congenital nevi and melanoma. (Nature Cell Biology. 2012; 14:882-890.);

GenBank Accession Number : NM_006941;

Details

Origin ID

C102892;

UMLS CUI

C3539821;

Automatic exact mappings (from CISMeF team)
- Methyldimethoxyamphetamine (substance) [SNOMED CT concept]
- PCWH syndrome [DO Concept]
- Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [OMIM Phenotype]
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease [ORDO Disease]
- SRY-box transcription factor 10 [ORDO Gene]
- Sry-box 10 [OMIM gene]
- Waardenburg syndrome type 2E [DO Concept]
- Waardenburg syndrome type 4C [DO Concept]
- Waardenburg syndrome, type 2e [OMIM Phenotype]
- Waardenburg syndrome, type 4a [OMIM Phenotype]
- Waardenburg syndrome, type 4c [OMIM Phenotype]
- Waardenburg-Shah syndrome [ORDO Disease]
- condoms [MeSH Descriptor]
False automatic mappings
- DOM 2,5-Dimethoxy-4-Methylamphetamine [MeSH Descriptor]
OMIM relation
- Sry-box 10 [OMIM gene]
See also inter- (CISMeF)
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q13.1 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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