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GENE - TERM ANNOTATION REPORT

RGD ID: 1592387
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tcap
Name: titin-cap
Acc ID: DOID:0110310
Term: hypertrophic cardiomyopathy 4
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7493025 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493026 "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)
Tcap ISOTCAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4PMID:12507422 PMID:15582318 PMID:28492532
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