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GENE - TERM ANNOTATION REPORT

CRRD ID: 11692792
Species: Pan paniscus
CRRD Object: Gene
Symbol: POMT2
Name: protein O-mannosyltransferase 2
Acc ID: DOID:0111240
Term: congenital muscular dystrophy-dystroglycanopathy type A2
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15894594
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 ISORGD:13134807240710OMIM  
POMT2 ISSRGD:13134809068941OMIM  
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2

PMID:15894594, PMID:16701995, PMID:17559086, PMID:17634419, PMID:17878207, PMID:17878297, PMID:18414213, PMID:18513969, PMID:18752264, PMID:19138766, PMID:19299310, PMID:22958903, PMID:24002165, PMID:25267602, PMID:25741868, PMID:26467025, PMID:26495167, PMID:27854218, PMID:28492532, PMID:28980384, PMID:29175898, PMID:30060766
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED

PMID:15894594, PMID:16701995, PMID:17634419, PMID:19299310, PMID:22323514, PMID:25741868, 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.