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GENE - TERM ANNOTATION REPORT

RGD ID: 1588543
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Brcc3
Name: BRCA1/BRCA2-containing complex subunit 3
Acc ID: DOID:11726
Term: Emery-Dreifuss muscular dystrophy
Definition: A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy "DO" "DO", http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy "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)
Brcc3 ISOBRCC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophyPMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:9384614
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