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GENE - TERM ANNOTATION REPORT

RGD ID: 8716438
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Dnmt1
Name: DNA methyltransferase 1
Acc ID: DOID:0050968
Term: autosomal dominant cerebellar ataxia, deafness and narcolepsy
Definition: An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy "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)
Dnmt1 ISODNMT1 (Homo sapiens)7240710OMIM  
Dnmt1 ISODNMT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsyPMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 PMID:7898717 PMID:8747854 PMID:9536098
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