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GENE - TERM ANNOTATION REPORT

RGD ID: 13870012
Species: Sus scrofa
RGD Object: Gene
Symbol: ARHGAP31
Name: Rho GTPase activating protein 31
Acc ID: DOID:9004220
Term: Adams-Oliver Syndrome 1
Definition: This disease is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly).
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)
ARHGAP31 ISOARHGAP31 (Homo sapiens)7240710OMIM  
ARHGAP31 ISOARHGAP31 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:16451141 PMID:21565291 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29924900 PMID:474617
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