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GENE - TERM ANNOTATION REPORT

RGD ID: 1313481
Species: Mus musculus
RGD Object: Gene
Symbol: Pomt2
Name: protein-O-mannosyltransferase 2
Acc ID: DOID:9884
Term: muscular dystrophy
Definition: A myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Muscular_dystrophy "DO" "DO", http://www.ninds.nih.gov/disorders/md/md.htm "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)
Pomt2 ISOPOMT2 (Homo sapiens)11532760RGDDNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human) 
Pomt2 ISOPOMT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophyPMID:15894594 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532
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