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GENE - TERM ANNOTATION REPORT

RGD ID: 8719720
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ppp2r1a
Name: protein phosphatase 2 scaffold subunit Aalpha
Acc ID: DOID:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
Ppp2r1a ISOPPP2R1A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:29100083 PMID:31531803 PMID:33106617
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