×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
Biomarker
disease
MGD
Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.
29720471
2018
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
27717089
2017
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
26863999
2016
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
24840153
2014
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.
24192681
2013
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
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
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene.
20374271
2010
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
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
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triose phosphate isomerase deficiency is caused by altered dimerization--not catalytic inactivity--of the mutant enzymes.
17183658
2006
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
Biomarker
disease
GENOMICS_ENGLAND
Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency.
11698297
2001
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.
11196750
2001
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
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
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.
9842650
1999
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
9338582
1997
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
GeneticVariation
disease
UNIPROT
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.
9338582
1997
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
GeneticVariation
disease
UNIPROT
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
8571957
1996
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
Biomarker
disease
GENOMICS_ENGLAND
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.
7485100
1995
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families.
7485100
1995
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.
7628118
1995
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
GeneticVariation
disease
UNIPROT
Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.
8503454
1993
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
GeneticVariation
disease
UNIPROT
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
2876430
1986
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
CausalMutation
disease
CLINVAR
Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.
2876430
1986
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
Biomarker
disease
CTD_human
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.900
GermlineCausalMutation
disease
ORPHANET