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GENE - TERM ANNOTATION REPORT

RGD ID: 1308207
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dnajb6
Name: DnaJ heat shock protein family (Hsp40) member B6
Acc ID: DOID:11724
Term: limb-girdle muscular dystrophy
Definition: A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy "DO" "DO", http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1408/ "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)
Dnajb6 ISODNAJB6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22366786
Dnajb6 ISODNAJB6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, DominantPMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
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