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GENE - TERM ANNOTATION REPORT

RGD ID: 62030
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Myh7
Name: myosin heavy chain 7
Acc ID: DOID:0111078
Term: tibial muscular dystrophy
Definition: A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12145747 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/196233 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503797 "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)
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