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GENE - TERM ANNOTATION REPORT

RGD ID: 11692792
Species: Pan paniscus
RGD 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 "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)8554872ClinVarClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532
POMT2 ISOPOMT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1PMID:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33200426 PMID:34413876
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