rs527656756, MTA3;HAAO

N. diseases: 21
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
11 pairs of ribs
CUI: C1839731
Disease: 11 pairs of ribs
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Aplasia of the semicircular canal
CUI: C4023385
Disease: Aplasia of the semicircular canal
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Bifid uvula
CUI: C4551488
Disease: Bifid uvula
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
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
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Hypoplastic cervical vertebrae
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
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
Incomplete partition of the cochlea type II
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Laryngeal web
CUI: C0281890
Disease: Laryngeal web
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Laryngotracheomalacia
CUI: C0585984
Disease: Laryngotracheomalacia
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Submucous cleft of hard palate
CUI: C0432103
Disease: Submucous cleft of hard palate
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Talipes
CUI: C1301937
Disease: Talipes
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017