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GENE - TERM ANNOTATION REPORT

RGD ID: 1304827
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pomgnt2
Name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Acc ID: DOID:0111231
Term: congenital muscular dystrophy-dystroglycanopathy type A8
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22958903 "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)
Pomgnt2 ISOPOMGNT2 (Homo sapiens)7240710OMIM  
Pomgnt2 ISOPOMGNT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATEDPMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910
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