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GENE - TERM ANNOTATION REPORT

RGD ID: 12515693
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Dnm2
Name: dynamin 2
Acc ID: DOID:0111225
Term: centronuclear myopathy X-linked
Definition: A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/8640223 "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)
Dnm2 ISODNM2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe X-linked myotubular myopathyPMID:17932957 PMID:18414213 PMID:20227276 PMID:20700106 PMID:22396310 PMID:23338057 PMID:24135484 PMID:25741868 PMID:25957634 PMID:26199319 PMID:28492532 PMID:32860008
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