Gene: HPRT1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. 20544509

2010
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. 20544509

2010
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 17027311

2007
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 17027311

2007
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. 15571223

2004
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. 15571223

2004
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations. 9452051

1998
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations. 9452051

1998
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies. 7627191

1995
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies. 7627191

1995
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation BEFREE A G-to-A substitution at base 208 in exon 3, which predicted glycine 70 to arginine, was detected in the LNS patient (identical mutation with HPRT Utrecht). 8112742

1994
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. 2071157

1991
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. 2071157

1991
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. 2358296

1990
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). 2246854

1990
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587

1990
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). 2246854

1990
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. 2358296

1990
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587

1990
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. 2910902

1989
dbSNP: rs137852483
rs137852483
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients. 2572141

1989
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. 2910902

1989
dbSNP: rs137852488
rs137852488
HPRT1
0.810 GeneticVariation UNIPROT Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients. 2572141

1989