×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
Biomarker
disease
CTD_human
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
Biomarker
disease
HPO
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
GeneticVariation
disease
ORPHANET
Genetic Origins of Tetralogy of Fallot.
29045289
2018
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
GeneticVariation
disease
UNIPROT
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
10587520
1999
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
GeneticVariation
disease
UNIPROT
NKX2.5 mutations in patients with congenital heart disease.
14607454
2003
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
GeneticVariation
disease
UNIPROT
NKX2.5 mutations in patients with tetralogy of fallot.
11714651
2001
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
0.960
Biomarker
disease
MGD
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
28352650
2017
×
Entrez Id:
1482
Gene Symbol:
NKX2-5
NKX2-5
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