Disease: Gout, HPRT-Related ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		AT 0.700 GeneticVariation CLINVAR Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 28045594 2017
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672 2014
dbSNP: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		AT 0.700 GeneticVariation CLINVAR HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 22132984 2011
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. 20544509 2010
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 17027311 2007
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. 15571223 2004
dbSNP: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		AT 0.700 GeneticVariation CLINVAR The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. 11018746 2000
dbSNP: rs137852489
rs137852489
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		T 0.700 CausalMutation CLINVAR Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. 9288634 1997
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. 7987318 1994
dbSNP: rs137852489
rs137852489
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		T 0.700 CausalMutation CLINVAR Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene. 1934271 1991
dbSNP: rs137852489
rs137852489
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		T 0.700 CausalMutation CLINVAR Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587 1990
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). 2909537 1989
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). 2896620 1988
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 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: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. 3198771 1988
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout. 6706936 1984
dbSNP: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 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: rs1228634091
rs1228634091
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. 6853490 1983
dbSNP: rs137852502
rs137852502
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852506
rs137852506
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		T 0.700 CausalMutation CLINVAR
dbSNP: rs369065223
rs369065223
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852477
rs137852477
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672 2014
dbSNP: rs137852478
rs137852478
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672 2014
dbSNP: rs137852479
rs137852479
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672 2014
dbSNP: rs137852482
rs137852482
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0268117
Disease:
Gout, HPRT-Related 		0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672 2014