Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.020 Biomarker group BEFREE Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). 20544511 2010
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.020 Biomarker group BEFREE Lesch-Nyhan syndrome is an X-linked recessive inborn error of metabolism due to a virtually complete lack of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity (OMIM 300322). 18316217 2008