Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

CRRD ID: 2507
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dmd
Name: dystrophin
Acc ID: DOID:9884
Term: muscular dystrophy
Definition: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Definition Source(s): MESH:D009136, http://en.wikipedia.org/wiki/Muscular_dystrophy, http://www.ninds.nih.gov/disorders/md/md.htm
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:10465346, PMID:11185740, PMID:1549142, PMID:20031633, PMID:2063877, PMID:24033266, PMID:9327405
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:16030524, PMID:18752307, PMID:19449031, PMID:20301298, PMID:2063877, PMID:23299919, PMID:24033266, PMID:24135430, PMID:25244321
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:21515508, PMID:24055113, PMID:25637381, PMID:28492532
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:25741868
 ISOCRRD:73697611554173CTDCTD Direct Evidence: marker/mechanism|therapeutic

PMID:10797403, PMID:17440445, PMID:20805873, PMID:22906800
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.