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GENE - TERM ANNOTATION REPORT

RGD ID: 620078
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pomt1
Name: protein-O-mannosyltransferase 1
Acc ID: DOID:0110297
Term: autosomal recessive limb-girdle muscular dystrophy type 2K
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)
Definition Source(s): PMID:15792865 "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)
Pomt1 ISOPOMT1 (Homo sapiens)7240710OMIM  
Pomt1 ISOPOMT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2KPMID:11053679 PMID:11320179 PMID:1236901 PMID:12369018 PMID:14678799 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:19763152 PMID:20065251 PMID:20307669 PMID:20816175 PMID:21102627 PMID:22323514 PMID:22406018 PMID:22499106 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:24901346 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:27363342 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28182637 PMID:28403181 PMID:28492532 PMID:28556411 PMID:28707430 PMID:28815891 PMID:29101272 PMID:30060766 PMID:30426380 PMID:30564623 PMID:31311558 PMID:31680349 PMID:31862442 PMID:32528171 PMID:32860008 PMID:33146414 PMID:34490615 PMID:34925456 PMID:34930662 PMID:35046417 PMID:35606784 PMID:35769956 PMID:35846108 PMID:9536098
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