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GENE - TERM ANNOTATION REPORT

CRRD ID: 12137840
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: POMT2
Name: protein O-mannosyltransferase 2
Acc ID: DOID:0111237
Term: congenital muscular dystrophy-dystroglycanopathy type A1
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12369018
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:13134809068941ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

PMID:17559086, PMID:25741868, PMID:26467025, PMID:28492532
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1

PMID:17634419, PMID:17878207, PMID:17878297, PMID:19138766, PMID:19299310, PMID:24002165, PMID:25741868, PMID:27854218, PMID:28492532
POMT2 ISSRGD:13134809068941MouseDOOMIM:236670

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.