Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3816183
rs3816183
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0848558
Disease:
Hypospadias 		0.710 GeneticVariation 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
dbSNP: rs3816183
rs3816183
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0848558
Disease:
Hypospadias 		T 0.710 GeneticVariation GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
dbSNP: rs1065643
rs1065643
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C3548805
Disease:
response to aromatase inhibitor 		G 0.700 GeneticVariation GWASCAT Anastrozole Aromatase Inhibitor Plasma Drug Concentration Genome-Wide Association Study: Functional Epistatic Interaction Between SLC38A7 and ALPPL2. 30648747 2019
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1842083
Disease:
Abnormality of the ribs 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0152101
Disease:
Hypoplastic Left Heart Syndrome 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1970816
Disease:
Hypoplastic sacrum 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C4540004
Disease:
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0080218
Disease:
Tethered Cord Syndrome 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0080178
Disease:
Spina Bifida 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1844752
Disease:
Butterfly vertebrae 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1849311
Disease:
Short 1st metacarpal 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs1135401743
rs1135401743
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0432163
Disease:
Defect of vertebral segmentation 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C4023385
Disease:
Aplasia of the semicircular canal 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1842083
Disease:
Abnormality of the ribs 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0747085
Disease:
Recurrent otitis media 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C4551488
Disease:
Bifid uvula 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1839731
Disease:
11 pairs of ribs 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C1843367
Disease:
Poor school performance 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0432163
Disease:
Defect of vertebral segmentation 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C4540004
Disease:
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C4025857
Disease:
Incomplete partition of the cochlea type II 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
dbSNP: rs527656756
rs527656756
Entrez Id: 23498;57504
Gene Symbol: HAAO;MTA3
HAAO;MTA3
CUI: C0432103
Disease:
Submucous cleft of hard palate 		CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017