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GENE - TERM ANNOTATION REPORT

RGD ID: 18642520
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: DNMT1
Name: DNA methyltransferase 1
Acc ID: DOID:0070158
Term: hereditary sensory neuropathy type 1E
Definition: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21532572 "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: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIAPMID:10210919 PMID:16199547 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:23521649 PMID:23904686 PMID:23911319 PMID:24727570 PMID:25326637 PMID:25678562 PMID:25741868 PMID:26467025 PMID:28334952 PMID:28492532 PMID:30165906 PMID:30342480 PMID:31049076 PMID:31984424 PMID:35640668 PMID:7898717 PMID:8747854 PMID:9536098
DNMT1 ISODNMT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy | ClinVar Annotator: match by term: HSN IE | ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIAPMID:10210919 PMID:16199547 PMID:17576681 PMID:21532572 PMID:23365052 PMID:23521649 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30165906 PMID:7898717 PMID:9536098
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