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GENE - TERM ANNOTATION REPORT

RGD ID: 1586427
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pomt2
Name: protein-O-mannosyltransferase 2
Acc ID: DOID:0110298
Term: autosomal recessive limb-girdle muscular dystrophy type 2N
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17878207 "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)7240710OMIM  
Pomt2 ISOPOMT2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pomt2 ISOPOMT2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2PMID:15894594 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:24002165 PMID:24033266 PMID:25214167 PMID:25741868 PMID:26467025 PMID:27447704 PMID:27457812 PMID:27854218 PMID:28492532 PMID:29175898 PMID:29382405 PMID:30060766 PMID:31127727 PMID:32404165 PMID:32528171 PMID:33176815 PMID:33200426 PMID:34413876 PMID:9536098
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