TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations. 27717089 2017
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis. 26863999 2016
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency. 24840153 2014
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency. 24192681 2013
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene. 20374271 2010
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes. 17183658 2006
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case. 11196750 2001
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia. 9842650 1999
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. 9338582 1997
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
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
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families. 7485100 1995
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. 7628118 1995
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		0.820 GeneticVariation UNIPROT Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. 8503454 1993
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		C 0.820 CausalMutation CLINVAR Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986
dbSNP: rs121964845
rs121964845
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
CUI: C1860808
Disease:
Triosephosphate Isomerase Deficiency 		0.820 GeneticVariation UNIPROT Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. 2876430 1986
dbSNP: rs121964847
rs121964847
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
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
dbSNP: rs121964848
rs121964848
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
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
dbSNP: rs121964849
rs121964849
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
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
dbSNP: rs121964847
rs121964847
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
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