Disease: Lesch-Nyhan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852489
rs137852489
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome 		T 0.700 CausalMutation CLINVAR Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. 9288634 1997
dbSNP: rs137852489
rs137852489
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome 		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: C0023374
Disease:
Lesch-Nyhan Syndrome 		T 0.700 CausalMutation CLINVAR Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587 1990