Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.600 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		0.600 GermlineCausalMutation disease ORPHANET NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker group GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		0.300 GermlineCausalMutation disease ORPHANET NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.200 Biomarker disease RGD Basal ganglia lesions in the rat: effects on quinolinic acid metabolism. 2527078 1989
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.110 GeneticVariation disease BEFREE Single nucleotide polymorphism rs3816183 of HAAO was significantly associated with susceptibility to hypospadias in general (p = 0.0019) and to anterior/middle hypospadias (p = 0.0283) and posterior hypospadias (p = 0.0226), while single nucleotide polymorphism rs6499755 of IRX6 showed an association with susceptibility to anterior/middle hypospadias (p = 0.0472). 30063927 2019
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.110 GeneticVariation disease GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation group CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		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: 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: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		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: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017