Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 GeneticVariation group BEFREE Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. 28045594 2017
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 GeneticVariation group BEFREE Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. 28524722 2017
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 GeneticVariation group BEFREE Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. 29185864 2017
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 GeneticVariation group BEFREE Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. 27379977 2016
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 GeneticVariation group BEFREE Lesch-Nyhan syndrome (LNS) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase(HGprt) is defective. 25965333 2015
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 Biomarker group BEFREE X-linked hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency in an inherited disorder of purine metabolism is usually associated with the clinical manifestations of hyperuricemia. 25476133 2015
CUI: C0268104
Disease: Disorder of purine metabolism
Disorder of purine metabolism
0.070 Biomarker group BEFREE Lesch-Nyhan syndrome (LNS) is a neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT) is defective. 24680827 2014