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GENE - TERM ANNOTATION REPORT

RGD ID: 2269
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Capn3
Name: calpain 3
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)
Capn3 ISOCAPN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:10330340 PMID:16971480 PMID:17526799 PMID:17562833 PMID:18337726 PMID:18414213 PMID:18563459 PMID:22926650 PMID:25741868 PMID:26467025 PMID:26810512 PMID:28492532 PMID:30564623 PMID:30919934 PMID:31555977 PMID:35135626
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