rs770642379, KYNU

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Short long bone
CUI: C1854912
Disease: Short long bone
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Hypoplastic Left Heart Syndrome
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
0.700 CausalMutation CLINVAR