Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434423
rs121434423
GDF1 ; CERS1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340

2007
dbSNP: rs121908601
rs121908601
ZFPM2
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT A novel NKX2.6 mutation associated with congenital ventricular septal defect. 25380965

2015
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. 24421281

2014
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. 25195019

2014
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT Common arterial trunk associated with a homeodomain mutation of NKX2.6. 15649947

2005
dbSNP: rs28936670
rs28936670
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs28939675
rs28939675
TBX1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs387906813
rs387906813
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519

2009