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GENE - TERM ANNOTATION REPORT

RGD ID: 18697479
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: HRC
Name: histidine rich calcium binding protein
Acc ID: DOID:0111076
Term: progressive familial heart block type IB
Definition: A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19726882 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "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)
HRC ISOHRC (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IBPMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 PMID:26820365 PMID:27207958 PMID:27884173 PMID:28341588 PMID:28492532 PMID:30021168 PMID:30142439 PMID:619595
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