Disease: Gout, HPRT-Related ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 CausalMutation disease CLINVAR Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene. 1934271 1991
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 CausalMutation disease CLINVAR Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587 1990
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). 2909537 1989
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease 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
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. 3198771 1988
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). 2896620 1988
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout. 6706936 1984
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. 6572373 1983
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		0.800 GeneticVariation disease UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. 6853490 1983