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GENE - TERM ANNOTATION REPORT

RGD ID: 1550302
Species: Mus musculus
RGD Object: Gene
Symbol: Cacna1c
Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Acc ID: DOID:397
Term: restrictive cardiomyopathy
Definition: An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8995091 "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)
Cacna1c ISOCACNA1C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Restrictive cardiomyopathyPMID:20817017 PMID:22840528 PMID:23861362 PMID:25633834 PMID:25741868 PMID:27662471 PMID:28492532 PMID:28750076
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