Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
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
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
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
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
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
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Common arterial trunk associated with a homeodomain mutation of NKX2.6. 15649947

2005
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
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
Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 CausalMutation CLINVAR

Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 Biomarker CTD_human

Entrez Id: 137814
Gene Symbol: NKX2-6
NKX2-6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 GeneticVariation CLINVAR

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 GeneticVariation BEFREE Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. 7633403

1995
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 GeneticVariation UNIPROT

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker CTD_human

Entrez Id: 6899
Gene Symbol: TBX1
TBX1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker GENOMICS_ENGLAND Role of GATA-6 and Bone Morphogenetic Protein-2 in Dexamethasone-Induced Cleft Palate Formation in Institute of Cancer Research Mice. 27391658

2016
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker GENOMICS_ENGLAND Enhanced desumoylation in murine hearts by overexpressed SENP2 leads to congenital heart defects and cardiac dysfunction. 22155005

2012
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 GeneticVariation UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519

2009
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 GeneticVariation UNIPROT The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? 17891434

2008
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 GeneticVariation UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454

2003
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker CTD_human

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker CTD_human

Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 2657
Gene Symbol: GDF1
GDF1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.500 Biomarker GENOMICS_ENGLAND Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257

2017
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.500 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340

2007
Entrez Id: 2657
Gene Symbol: GDF1
GDF1
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.500 Biomarker GENOMICS_ENGLAND Synergistic interaction between Gdf1 and Nodal during anterior axis development. 16564040

2006