Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0018099
Disease: Gout
Gout 		0.130 GeneticVariation LHGDN HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease. 16216473

2006
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0018099
Disease: Gout
Gout 		0.130 GeneticVariation BEFREE A C-to-A substitution at base 73 in exon 2, which predicted proline 25 to threonine, was detected in the gout patient (designated HPRT Yonago). 8112742

1994
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0018099
Disease: Gout
Gout 		0.130 GeneticVariation BEFREE Although these 'evolutionary conserved' amino acids account for only 32% of the amino acids in the human hprt protein, they are involved in 76% of the missense mutations at the hprt locus in human T-lymphocytes, 67% in Lesch-Nyhan patients (with severe hprt-deficiency), but only 43% in gout patients (with partial hprt deficiency). 1306134

1992
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0018099
Disease: Gout
Gout 		0.130 Biomarker HPO