TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Disease: Enzymopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		0.330 Biomarker group BEFREE Triose phosphate isomerase (TPI) deficiency glycolytic enzymopathy is a progressive neurodegenerative condition that remains poorly understood. 18458110 2008
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		0.330 GeneticVariation group BEFREE Biochemical studies demonstrate that mutation of this glycolytic enzyme gene does not result in a bioenergetic deficit, suggesting an alternate cause of enzymopathy associated with TPI impairment. 16980388 2006
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		0.330 Biomarker group GENOMICS_ENGLAND Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. 11698297 2001
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		0.330 Biomarker group GENOMICS_ENGLAND Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. 7485100 1995
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		0.330 AlteredExpression group BEFREE Both parents and some other family members had moderately reduced erythrocyte TPI activity in accordance with the autosomal recessive mode of inheritance in this enzymopathy. 669702 1978