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GENE - TERM ANNOTATION REPORT

RGD ID: 1322256
Species: Mus musculus
RGD Object: Gene
Symbol: Dysf
Name: dysferlin
Acc ID: DOID:0070198
Term: Miyoshi muscular dystrophy
Definition: A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/3942856 "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)
Dysf ISODYSF (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15535137 PMID:17868276
Dysf ISODYSF (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Miyoshi muscular dystrophy | ClinVar Annotator: match by term: Miyoshi myopathy | ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessivePMID:12796534 PMID:14678801 PMID:15469449 PMID:17512949 PMID:17897828 PMID:18832576 PMID:18853459 PMID:19493611 PMID:20535123 PMID:21522182 PMID:22046204 PMID:22297152 PMID:24033266 PMID:24239059 PMID:24438169 PMID:24838345 PMID:25214167 PMID:25525159 PMID:25741868 PMID:25868377 PMID:25987458 PMID:26077327 PMID:26290895 PMID:26467025 PMID:27365461 PMID:27666772 PMID:28492532 PMID:30107846 PMID:30564623 PMID:32504279 PMID:32528171 PMID:34426522 PMID:34906502
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