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GENE - TERM ANNOTATION REPORT

RGD ID: 735124
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dpagt1
Name: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Acc ID: DOID:0110676
Term: congenital myasthenic syndrome 13
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16870884 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22742743 "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)
Dpagt1 ISODPAGT1 (Homo sapiens)7240710OMIM  
Dpagt1 ISODPAGT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22742743 PMID:22786653 PMID:23249953 PMID:23430862 PMID:23591138 PMID:23806237 PMID:24033266 PMID:24759841 PMID:25500013 PMID:25741868 PMID:25741915 PMID:26467025 PMID:28454995 PMID:28492532 PMID:28662078 PMID:28712839 PMID:30117111 PMID:30388443 PMID:31127727 PMID:31153949 PMID:31589614 PMID:33743358 PMID:9536098
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