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GENE - TERM ANNOTATION REPORT

RGD ID: 1606256
Species: Homo sapiens
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 IAGP 7240710OMIM  
ARHGAP31 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:25741868 PMID:28492532
ARHGAP31 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ARHGAP31-related condition | ClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:25741868
ARHGAP31 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:24033266 PMID:25741868 PMID:28492532
ARHGAP31 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:29924900
ARHGAP31 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:16451141 PMID:21565291
ARHGAP31 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adams-Oliver syndrome 1PMID:21565291 PMID:474617
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