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GENE - TERM ANNOTATION REPORT

RGD ID: 13863439
Species: Sus scrofa
RGD Object: Gene
Symbol: POMGNT1
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Acc ID: DOID:0112374
Term: muscular dystrophy-dystroglycanopathy
Definition: A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19299310/ "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)
POMGNT1 ISOPOMGNT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathyPMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22819665 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29096039 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31069529 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:9536098
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