Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. 20544509

2010
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 17027311

2007
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. 15571223

2004
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. 7987318

1994
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). 2909537

1989
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. 3198771

1988
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). 2896620

1988
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. 3358423

1988
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout. 6706936

1984
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. 6853490

1983
dbSNP: rs387906725
rs387906725
HPRT1
0.800 GeneticVariation UNIPROT Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. 6572373

1983
dbSNP: rs387906725
rs387906725
HPRT1
A 0.800 CausalMutation CLINVAR