Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
CUI: C3280866
Disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) 		0.710 GeneticVariation UNIPROT Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. 22152682

2011