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GENE - TERM ANNOTATION REPORT

RGD ID: 11679030
Species: Pan paniscus
RGD Object: Gene
Symbol: TPK1
Name: thiamin pyrophosphokinase 1
Acc ID: DOID:9003549
Term: Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Definition: null
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)
TPK1 ISOTPK1 (Homo sapiens)7240710OMIM  
TPK1 ISOTPK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)PMID:16199547 PMID:17576681 PMID:22152682 PMID:25106414 PMID:25458521 PMID:25640679 PMID:25741868 PMID:26975778 PMID:28431625 PMID:28492532 PMID:28747443 PMID:28856750 PMID:30483896 PMID:30789823 PMID:31288420 PMID:31404531 PMID:32679198 PMID:33086386 PMID:9536098
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