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: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0521525
Disease: Short neck
Short neck 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1854912
Disease: Short long bone
Short long bone 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0020649
Disease: Hypotension
Hypotension 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO