×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
GeneticVariation
disease
UNIPROT
A novel NKX2.6 mutation associated with congenital ventricular septal defect.
25380965
2015
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
GeneticVariation
disease
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
0.700
GeneticVariation
disease
UNIPROT
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
24421281
2014
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
Biomarker
disease
GENOMICS_ENGLAND
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
15649947
2005
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
GeneticVariation
disease
UNIPROT
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
15649947
2005
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
137814
Gene Symbol:
NKX2-6
NKX2-6
0.700
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.610
GeneticVariation
disease
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
0.610
GeneticVariation
disease
UNIPROT
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.610
Biomarker
disease
CTD_human
×
Entrez Id:
6899
Gene Symbol:
TBX1
TBX1
0.610
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.600
Biomarker
disease
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
0.600
Biomarker
disease
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
0.600
GeneticVariation
disease
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
0.600
GeneticVariation
disease
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
0.600
GeneticVariation
disease
UNIPROT
NKX2.5 mutations in patients with congenital heart disease.
14607454
2003
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.600
Biomarker
disease
CTD_human
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.600
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2627
Gene Symbol:
GATA6
GATA6
0.600
Biomarker
disease
CTD_human
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.600
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
2657
Gene Symbol:
GDF1
GDF1
0.500
Biomarker
disease
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
0.500
GeneticVariation
disease
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
0.500
Biomarker
disease
GENOMICS_ENGLAND
Synergistic interaction between Gdf1 and Nodal during anterior axis development.
16564040
2006