Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
ORPHANET |
Genetic Origins of Tetralogy of Fallot.
|
29045289 |
2018 |
Tetralogy of Fallot
|
0.960 |
Biomarker
|
disease |
MGD |
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
|
28352650 |
2017 |
Tetralogy of Fallot
|
0.960 |
PosttranslationalModification
|
disease |
BEFREE |
Aberrant methylation statuses of the NKX2-5 gene body and HAND1 promoter regions are associated with the regulation of gene transcription in TOF patients and may play an important role in the pathogenesis of TOF.
|
24182332 |
2013 |
Tetralogy of Fallot
|
0.960 |
AlteredExpression
|
disease |
BEFREE |
Higher methylation levels of NKX2-5 and HAND1 and lower methylation levels of TBX20 were also observed in patients with TOF than in controls.
|
22672592 |
2012 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Numerous mutations in NKX2-5 gene have been reported in CHD patients, including atrial septal defect, ventricular septal defect (VSD) and tetrology of Fallot.
|
22824467 |
2012 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Our study shows no evidence of somatic NKX2-5, GATA4 and HAND1 mutations playing a role in the pathogenesis of TOF.
|
21519287 |
2011 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
They found one previously documented NKX2-5 missense alteration, heterozygous c.73C>T (p.Arg25Cys), in a 10-year-old boy with tetralogy of Fallot.
|
17891434 |
2008 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NKX2-5 have been found in families showing secundum ASD and atrioventricular (AV) conduction block and in some individuals with tetralogy of Fallot.
|
12798584 |
2003 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
NKX2.5 mutations in patients with tetralogy of fallot.
|
11714651 |
2001 |
Tetralogy of Fallot
|
0.960 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
|
10587520 |
1999 |
Tetralogy of Fallot
|
0.960 |
Biomarker
|
disease |
CTD_human |
|
|
|
Tetralogy of Fallot
|
0.960 |
Biomarker
|
disease |
HPO |
|
|
|
Tetralogy of Fallot
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Tetralogy of Fallot
|
0.960 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hypoplastic Left Heart Syndrome
|
0.810 |
Biomarker
|
disease |
MGD |
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
|
28352650 |
2017 |
Hypoplastic Left Heart Syndrome
|
0.810 |
SusceptibilityMutation
|
disease |
ORPHANET |
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
|
20456451 |
2010 |
Hypoplastic Left Heart Syndrome
|
0.810 |
GeneticVariation
|
disease |
LHGDN |
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
|
12798584 |
2003 |
Hypoplastic Left Heart Syndrome
|
0.810 |
SusceptibilityMutation
|
disease |
ORPHANET |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
Hypoplastic Left Heart Syndrome
|
0.810 |
GeneticVariation
|
disease |
BEFREE |
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
|
12798584 |
2003 |
Hypoplastic Left Heart Syndrome
|
0.810 |
SusceptibilityMutation
|
disease |
ORPHANET |
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
|
12798584 |
2003 |
Hypoplastic Left Heart Syndrome
|
0.810 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hypoplastic Left Heart Syndrome
|
0.810 |
Biomarker
|
disease |
HPO |
|
|
|
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
|
0.800 |
Biomarker
|
disease |
MGD |
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
|
28352650 |
2017 |
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
|
15810002 |
2005 |