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GENE - TERM ANNOTATION REPORT

RGD ID: 18910287
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Tnpo3
Name: transportin 3
Acc ID: DOID:0110304
Term: autosomal dominant limb-girdle muscular dystrophy type 2
Definition: An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)
Definition Source(s): PMID:23543484 "DO" "DO", PMID:23667635 "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)
Tnpo3 ISOTNPO3 (Homo sapiens)7240710OMIM  
Tnpo3 ISOTNPO3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1F | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1FPMID:11222786 PMID:16199547 PMID:17576681 PMID:23543484 PMID:23667635 PMID:25741868 PMID:28492532 PMID:30567601 PMID:31071488 PMID:31217819 PMID:31674007 PMID:31953240 PMID:9536098
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