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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:630
Term: genetic disease
Definition: A disease that has_material_basis_in genetic variations in the human genome. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/ "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)
TPK1 ISOTPK1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Inborn genetic diseasesPMID:22152682 PMID:25741868 PMID:26975778 PMID:28431625 PMID:28492532 PMID:28747443 PMID:28856750 PMID:30483896
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