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GENE - TERM ANNOTATION REPORT

RGD ID: 1601994
Species: Homo sapiens
RGD Object: Gene
Symbol: POMGNT1
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Acc ID: DOID:0111236
Term: congenital muscular dystrophy-dystroglycanopathy type A3
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11709191 "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 IAGP 7240710OMIM  
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12588800 PMID:12849864 PMID:19299310 PMID:20816175 PMID:21447391 PMID:23453855 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:25741868
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:25741868 PMID:26908613 PMID:28492532 PMID:36819107
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:17559086 PMID:18330676 PMID:22323514 PMID:23326386 PMID:25741868 PMID:28424332 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:25741868 PMID:26467025 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:16199547 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:23689641 PMID:25741868 PMID:28492532 PMID:29302074 PMID:31066047 PMID:32404165 PMID:33200426
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:25741868 PMID:27493216 PMID:28492532 PMID:28688748 PMID:30961548 PMID:34324503
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:16199547 PMID:17878207 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532 PMID:28688748
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12849864 PMID:21361872 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:16199547 PMID:19299310 PMID:20816175 PMID:21447391 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:15236414 PMID:15938569 PMID:17869517 PMID:17906881 PMID:21361872 PMID:23894383 PMID:25741868 PMID:28492532 PMID:33200426
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532 PMID:28688748 PMID:34324503
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:17878207 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:11709191 PMID:16199547 PMID:19299310 PMID:20816175 PMID:21447391 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:11709191 PMID:12788071 PMID:12849864 PMID:25741868
POMGNT1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:11709191
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATEDPMID:15236414 PMID:16427280 PMID:17906881 PMID:21361872 PMID:25390965 PMID:25741868 PMID:26467025 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:15236414 PMID:16427280 PMID:17030669 PMID:17559086 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25741868 PMID:27493216 PMID:28492532 PMID:33144682
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12588800 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12588800
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:17878207
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:17878207 PMID:18195152 PMID:18691338 PMID:19067344 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22995991 PMID:24123366 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:19299310 PMID:19679478 PMID:21361872 PMID:23689641 PMID:24731844 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:17878207 PMID:18195152 PMID:25741868
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:15466003 PMID:17030669 PMID:17559086 PMID:17878207 PMID:18195152 PMID:19067344 PMID:21361872 PMID:22323514 PMID:24282183 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:15466003 PMID:16199547 PMID:17030669 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:21727005 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:17906881 PMID:19067344 PMID:19299310 PMID:20816175 PMID:21361872 PMID:21447391 PMID:25741868 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12849864 PMID:17154333 PMID:17906881 PMID:19679478 PMID:20215985 PMID:21361872 PMID:24731844 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:11709191 PMID:12788071 PMID:12849864 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:15466003 PMID:17576681 PMID:22554691 PMID:25741868 PMID:26908613 PMID:28424332 PMID:28492532 PMID:9536098
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:15466003 PMID:17576681 PMID:19299310 PMID:22323514 PMID:22554691 PMID:25741868 PMID:26908613 PMID:28424332 PMID:28492532 PMID:28688748 PMID:29555514 PMID:9536098
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:21983716 PMID:25741868
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:19299310 PMID:20816175 PMID:21447391 PMID:22554691 PMID:25741868 PMID:26908613 PMID:26938784 PMID:27391550 PMID:28492532 PMID:28832562
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:12588800 PMID:21361872 PMID:24733390 PMID:25741868 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3PMID:15466003 PMID:25741868
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:11709191 PMID:17030669 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22554691 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
POMGNT1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3PMID:24033266 PMID:25741868 PMID:28492532
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