Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 Biomarker phenotype GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 GeneticVariation phenotype UNIPROT NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 GeneticVariation phenotype UNIPROT This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase. 17334708 2007
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 GermlineCausalMutation phenotype ORPHANET This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase. 17334708 2007
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 Biomarker phenotype CTD_human This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase. 17334708 2007
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 GeneticVariation phenotype BEFREE This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase. 17334708 2007
CUI: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria
0.710 CausalMutation phenotype CLINVAR