rs121964849, TPI1

N. diseases: 2
Disease: Triosephosphate Isomerase Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
0.800 GeneticVariation UNIPROT Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 9338582 1997
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
0.800 GeneticVariation UNIPROT Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. 8571957 1996
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
0.800 GeneticVariation UNIPROT Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
0.800 GeneticVariation UNIPROT Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986
Triosephosphate Isomerase Deficiency
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
0.800 CausalMutation CLINVAR