TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Disease: Inborn Errors of Metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.300 Biomarker group CTD_human Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.300 Biomarker group CTD_human Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986