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GENE - TERM ANNOTATION REPORT

RGD ID: 1315560
Species: Mus musculus
RGD Object: Gene
Symbol: Gtpbp1
Name: GTP binding protein 1
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)
Gtpbp1 ISOGTPBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophyPMID:16783378 PMID:17576681 PMID:18570303 PMID:18799783 PMID:22213678 PMID:25210889 PMID:28492532 PMID:9536098
Gtpbp1 ISOGTPBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophyPMID:17576681 PMID:28492532 PMID:9536098
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