KYNU, kynureninase, 8942

N. diseases: 88; N. variants: 8
Source: ALL
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
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.600 GermlineCausalMutation disease ORPHANET NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.600 CausalMutation disease CLINVAR
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 Biomarker disease BEFREE Here we examined circulating concentrations of inflammatory cytokines (IFN-γ, TNF-α, IL-1β, IL-6), and the acute phase protein CRP alongside plasma tryptophan, kynurenine, kynurenic acid (KYNA) and 3-hydroxyanthranilic acid (3-HAA) concentrations, and whole blood mRNA expression of IDO, kynurenine aminotransferases (KAT I and II), kynurenine-3-monooxygenase (KMO), kynureninase and SERT in patients with major depressive disorder (MDD) compared with age and sex-matched controls. 22683764 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker group GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.300 GermlineCausalMutation disease ORPHANET NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype CTD_human Gene expression changes by amyloid beta peptide-stimulated human postmortem brain microglia identify activation of multiple inflammatory processes. 16365156 2006
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		0.300 Biomarker group CTD_human Gene expression changes by amyloid beta peptide-stimulated human postmortem brain microglia identify activation of multiple inflammatory processes. 16365156 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.300 Biomarker group CTD_human Gene expression changes by amyloid beta peptide-stimulated human postmortem brain microglia identify activation of multiple inflammatory processes. 16365156 2006
CUI: C0751733
Disease: Degenerative Diseases, Spinal Cord
Degenerative Diseases, Spinal Cord 		0.300 Biomarker group CTD_human Gene expression changes by amyloid beta peptide-stimulated human postmortem brain microglia identify activation of multiple inflammatory processes. 16365156 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 GeneticVariation group BEFREE After having found no association with common polymorphisms, this study aimed to assess the role of 1 rare variant of KYNU, Arg188Gln, and kynureninase activity in relation to hypertension. 22012986 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.210 Biomarker group RGD Kynureninase is a novel candidate gene for hypertension in spontaneously hypertensive rats. 11924719 2002
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017