Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE MATERIAL AND METHODS To investigate the genetic variation of NKX2-5 in Chinese patients with sporadic atrial septal defect, we sequenced the full length of the NKX2-5 gene in the participants of the study. 30982828 2019
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE We have performed High resolution melting (HRM) mutation scanning of GATA4 coding exons of nonsyndrome 100 patients as a case group including 39 atrial septal defects (ASD), 57 ventricular septal defects (VSD) and four patients with both above defects and 50 healthy individuals as a control group. 29377543 2018
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10<sup>-4</sup>). 30354339 2018
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. 27752029 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE Congenital atrial septal defect (ASD) and progressive atriventricular block (AVB) are the two most common phenotypes linked to NK2 homeobox 5 (NKX2.5) mutations in animals and humans. 28259982 2017
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 AlteredExpression group BEFREE Furthermore, the mutation disrupted the synergistic activation between NKX2.5 and GATA binding protein 4, another cardiac core transcription factor associated with ASD. 28259982 2017
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 Biomarker group MGD Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling. 28352650 2017
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 PosttranslationalModification group BEFREE Our study broadens the mutation spectrum of the GATA4 gene and reveals for the first time a mutation at the methylation position of GATA4 associated with ASD. 26376067 2016
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE We screened 39 probands with familial CHD for mutations in NKX2-5 and discovered a novel mutation in one family (2.5%) with ASD and atrioventricular block. 26679770 2016
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE This study aimed to investigate the genetic variations of NKX2-5 in ASD and VSD in Chinese Yunnan population. 26297999 2016
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE The present study found that GATA4 genetic variations are associated with ASD, TOF and VSD in South Indian patients. 25928801 2015
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE Our previous study indicated that 8 patients from a family with a history of congenital heart disease had simple atrial septal defect (ASD) and carried the same mutation at codon 310 in the GATA4 gene. 25873328 2015
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE NKX2.5, GATA4, and TBX5 contribute to congenital ASD. 24498650 2014
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 Biomarker group BEFREE NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans. 24866383 2014
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE In conclusion, we identified a mutation in the GATA4 Kozak sequence that likely contributes to the pathogenesis of ASD. 25099673 2014
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group 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: 2626
Gene Symbol: GATA4
GATA4
0.400 Biomarker group MGD Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. 22589735 2012
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE Mutations in multiple members of the evolutionarily conserved cardiac transcription factor network, including GATA4, cause or predispose to ASDII and PFO. 21673957 2011
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE The findings expand the spectrum of mutations in NKX2-5 linked to ASD and contribute to genetic counseling, clinical interventions, and prenatal prevention of ASD for individuals with genetic susceptibility. 21188375 2011
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE In this study, the entire coding region of GATA4, a gene encoding a zinc-finger transcription factor crucial to embryogenesis, was initially sequenced in 120 unrelated patients with ASD. 21373748 2011
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE In addition, we did not identify any mutations in GATA4 in three familial atrial septal defects and two familial ventricular septal defects. 19915893 2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE A novel non-synonymous variant, c.839C>T (T280M) in GATA4, was identified and segregated with all the ASD patients within this Chinese family. 20659440 2010
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE The coding region of GATA4 and NKX2-5 genes was screened by sequencing in another 30 cases including 10 cases of ventricular septal defect (VSD), 10 cases of atrial septal defect (ASD), 8 cases of VSD combined with ASD and 2 cases of atrioventricular septal defects (AVSD). 20659440 2010
Entrez Id: 2626
Gene Symbol: GATA4
GATA4
0.400 GeneticVariation group BEFREE Here, we examine a Chinese family with isolated ASD to find out whether there is any mutation in NKX2.5 or GATA4 accounting for the etiology. 20347099 2010
Entrez Id: 1482
Gene Symbol: NKX2-5
NKX2-5
0.400 GeneticVariation group BEFREE The gene responsible for ASD was mapped to chromosome 5q35 encoding the transcription factor NKX2-5 that plays an important role for the regulation of septation during cardiac morphogenesis. 18375255 2008