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GENE - TERM ANNOTATION REPORT

RGD ID: 1309640
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smarcad1
Name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`
Acc ID: DOID:9001225
Term: Sclerotylosis
Definition: Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation. HRZ is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. (OMIM)
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)
Smarcad1 ISOSMARCAD1 (Homo sapiens)7240710OMIM  
Smarcad1 ISOSMARCAD1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Smarcad1 ISOSMARCAD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremitiesPMID:10631162 PMID:24909267 PMID:25741868 PMID:29409814 PMID:4298032 PMID:8731679
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