Sry-box 10 - CISMeF

Preferred Label : Sry-box 10;

Symbol : SOX10;

CISMeF acronym : SOX10;

Type : Gene;

Alternative titles and symbols : Sry-related hmg-box gene 10; Dominant megacolon, mouse, homolog of; DOM;

Ensembl ID : ENSG00000100146;

Prefixed ID : *602229;

Details

Origin ID

602229;

UMLS CUI

C1420317;

Automatic exact mappings (from CISMeF team)
- Dominican Republic [NCIt concept]
- Methyldimethoxyamphetamine (substance) [SNOMED CT concept]
- SOX10 [LOINC component]
- SOX10 Gene [NCIt concept]
- SOX10 wt Allele [NCIt concept]
- SRY-box transcription factor 10 [ORDO Gene]
- SRY-box transcription factor 10 [HGNC gene]
False automatic mappings
- DOM 2,5-Dimethoxy-4-Methylamphetamine [MeSH Descriptor]
HGNC gene
- SRY-box transcription factor 10 [HGNC gene]
NCIt concept(s)
- SOX10 Gene [NCIt concept]
- SOX10 wt Allele [NCIt concept]
- Transcription Factor SOX-10 [NCIt concept]
ORDO concept(s)
- SRY-box transcription factor 10 [ORDO Gene]
Phenotypes related
- Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease [OMIM Phenotype]
- Waardenburg syndrome, type 2e [OMIM Phenotype]
- Waardenburg syndrome, type 4c [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SOX10 Gene [NCIt concept]
- SRY-box transcription factor 10 [HGNC gene]

Keyword's position in hierarchy(ies) :

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