KYNU, kynureninase, 8942

N. diseases: 88; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231307
rs606231307
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0268474
Disease:
Hydroxykynureninuria 		0.800 GeneticVariation UNIPROT NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs606231307
rs606231307
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0268474
Disease:
Hydroxykynureninuria 		0.800 GeneticVariation UNIPROT Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. 17334708 2007
dbSNP: rs606231307
rs606231307
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0268474
Disease:
Hydroxykynureninuria 		G 0.800 CausalMutation CLINVAR
dbSNP: rs78201785
rs78201785
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. 31320639 2019
dbSNP: rs3768844
rs3768844
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs3816193
rs3816193
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C1838705
Disease:
Anteriorly placed anus 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0423109
Disease:
Upward slant of palpebral fissure 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0432152
Disease:
Thoracic hemivertebra 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C1854912
Disease:
Short long bone 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0521525
Disease:
Short neck 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0009081
Disease:
Congenital clubfoot 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C4551570
Disease:
2-3 toe syndactyly 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C1836806
Disease:
Mild microcephaly 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0239234
Disease:
Low set ears 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0432163
Disease:
Defect of vertebral segmentation 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0013274
Disease:
Patent ductus arteriosus 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C1839731
Disease:
11 pairs of ribs 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401744
rs1135401744
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0266295
Disease:
Congenital hypoplasia of kidney 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0266294
Disease:
Unilateral agenesis of kidney 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0432163
Disease:
Defect of vertebral segmentation 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0221354
Disease:
Frontal bossing 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0152101
Disease:
Hypoplastic Left Heart Syndrome 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs758865880
rs758865880
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0020676
Disease:
Hypothyroidism 		A 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017