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GENE - TERM ANNOTATION REPORT

CRRD ID: 11692792
Species: Pan paniscus
CRRD Object: Gene
Symbol: POMT2
Name: protein O-mannosyltransferase 2
Acc ID: DOID:0110274
Term: autosomal recessive limb-girdle muscular dystrophy
Definition: A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/13810212
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 ISSRGD:13134809068941CRRDDNA:missense mutation:exon:p.T184M, (c.551C>T) (human)

PMID:17923109, REF_RGD_ID:11532762
POMT2 ISSRGD:13134809068941ClinVarClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive

PMID:17878207, PMID:18513969, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.