TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.310 Biomarker group CTD_human Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.310 AlteredExpression group BEFREE A 16-month-old girl of Spanish origin with chronic hemolytic anemia and severe neuromuscular disease was found to have markedly reduced triosephosphate isomerase (TPI) activity in her erythrocytes, leukocytes, and plateletes. 669702 1978