Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations. 27717089 2017
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis. 26863999 2016
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency. 24840153 2014
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR The E104D mutation increases the susceptibility of human triosephosphate isomerase to proteolysis. Asymmetric cleavage of the two monomers of the homodimeric enzyme. 24056040 2013
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. 24192681 2013
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. 20374271 2010
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation BEFREE Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. 18562316 2008
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Structural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interface. 18562316 2008
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes. 17183658 2006
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 11196750 2001
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris). 10910933 2000
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 9842650 1999
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 9338582 1997
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation BEFREE Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 9338582 1997
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation UNIPROT Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 9338582 1997
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation UNIPROT Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. 8571957 1996
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. 7485100 1995
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. 7628118 1995
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation UNIPROT Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
Triosephosphate Isomerase Deficiency
0.820 CausalMutation CLINVAR Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986
Triosephosphate Isomerase Deficiency
0.820 GeneticVariation UNIPROT Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986