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GENE - TERM ANNOTATION REPORT

RGD ID: 1304726
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Smarce1
Name: SWI/SNF related BAF chromatin remodeling complex subunit E1
Acc ID: DOID:0112368
Term: Coffin-Siris syndrome 5
Definition: A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/22426308/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/23906836/ "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)
Smarce1susceptibilityISOSMARCE1 (Homo sapiens)7240710OMIM  
Smarce1 ISOSMARCE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coffin-Siris syndrome 5PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532
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