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GENE - TERM ANNOTATION REPORT

RGD ID: 1307884
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Twnk
Name: twinkle mtDNA helicase
Acc ID: DOID:0111276
Term: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Definition: A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12565911 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20220442 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9222196 "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)
Twnk ISOTWNK (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Twnk ISOTWNK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPMID:15668446 PMID:17614277 PMID:20301746 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:25741909 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:29458409 PMID:30770810 PMID:30799093 PMID:31852434 PMID:32619254 PMID:33095980 PMID:35011763 PMID:35286480 PMID:35982159
Twnk ISOTWNK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisPMID:15668446 PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:29458409
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