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CRRD ID: 12137840
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: POMT2
Name: protein O-mannosyltransferase 2
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,,
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 ISSRGD:13134809068941CRRDDNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)

PMID:17634419, REF_RGD_ID:11532760
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:17634419, PMID:17878207, PMID:17878297, PMID:19138766, PMID:19299310, PMID:24002165, PMID:25741868, PMID:27854218, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.