TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Disease: Foley-Denny-Brown Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751381
Disease: Foley-Denny-Brown Syndrome
Foley-Denny-Brown Syndrome 		0.300 Biomarker disease CTD_human Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993