rs1135401743, HAAO;MTA3

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
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
Hypoplastic sacrum
CUI: C1970816
Disease: Hypoplastic sacrum
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Tethered Cord Syndrome
CUI: C0080218
Disease: Tethered Cord Syndrome
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Sensorineural Hearing Loss (disorder)
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Butterfly vertebrae
CUI: C1844752
Disease: Butterfly vertebrae
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Short 1st metacarpal
CUI: C1849311
Disease: Short 1st metacarpal
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