Gene: HPRT1 ×
Source: BEFREE ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		0.110 Biomarker phenotype BEFREE Mutations in the gene encoding the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, a neurodevelopmental disorder characterized by cognitive, neurological, and behavioral abnormalities. 17448149 2007