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GENE - TERM ANNOTATION REPORT

RGD ID: 3735
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sox10
Name: SRY-box transcription factor 10
Acc ID: DOID:0090111
Term: PCWH syndrome
Definition: A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/gene/SOX10#conditions "DO" "DO", https://www.omim.org/entry/609136 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Sox10severityISOSOX10 (Homo sapiens)12802339RGD  
Sox10 ISOSOX10 (Homo sapiens)7240710OMIM  
Sox10 ISOSOX10 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Sox10 ISOSOX10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PCWH syndrome | ClinVar Annotator: match by term: Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung diseasePMID:10482261 PMID:10762540 PMID:11026454 PMID:12447940 PMID:15004559 PMID:1636383 PMID:17855451 PMID:17999358 PMID:19764030 PMID:20127975 PMID:22008330 PMID:24033266 PMID:25077900 PMID:25741868 PMID:25991456 PMID:26467025 PMID:27240497 PMID:27562378 PMID:28492532 PMID:29419413 PMID:30311386 PMID:32908489 PMID:35802133 PMID:36633841 PMID:9462749
Sox10 ISSSox10 (Mus musculus)13592920MouseDOOMIM:609136 
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