|
rs28939668
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
|
11152664 |
2001 |
|
rs28939668
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.
|
12649809 |
2003 |
|
rs28939668
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes.
|
19780835 |
2009 |
|
rs28939668
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart.
|
11152664 |
2001 |
|
rs28939668
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
|
20437614 |
2010 |
|
rs2228638
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We found that rs2228638 in NRP1 on 10p11 was significantly increased the risk of TOF (OR = 1.52, 95% CI = 1.13-2.04, P = 0.006), but not in other subgroups including ASD and VSD.
|
24594544 |
2014 |
|
rs2228638
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The meta-analysis showed that the T allele of the NRP1 polymorphism rs2228638 was significantly associated with an increased risk of TOF in the combined population, which included European and Chinese Han individuals [combined p < 0.00001, odds ratio (OR) = 1.53, 95% confidence interval (95% CI) = 1.35-1.73].
|
29432830 |
2018 |
|
rs115099192
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect.
|
21110066 |
2010 |
|
rs115099192
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs28936670
|
|
|
0.810 |
GeneticVariation |
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 |
|
rs28936670
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
|
10587520 |
1999 |
|
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with congenital heart disease.
|
14607454 |
2003 |
|
rs104893905
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NKX2.5 mutations in patients with tetralogy of fallot.
|
11714651 |
2001 |
|
rs121434424
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
|
17924340 |
2007 |
|
rs187043152
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs769531968
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
|
11152664 |
2001 |
|
rs769531968
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
|
20437614 |
2010 |
|
rs387906816
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Identification of GATA6 sequence variants in patients with congenital heart defects.
|
20581743 |
2010 |
|
rs387906816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The same heterozygous missense mutation (Ser184Asn) was identified in three patients, including one with tetralogy of Fallot and two with atrial septal defects.
|
20631719 |
2010 |
|
rs387906816
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
|
20631719 |
2010 |
|
rs387906816
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Three heterozygous missense mutations, c.151G>A (E51K), c.551G>A (S184N) and c.733G>C (G245R), were identified in patients with tetralogy of Fallot or persistent truncus arteriosus.
|
24841381 |
2014 |
|
rs11066320
|
|
|
0.710 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
|
23297363 |
2013 |
|
rs11066320
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Genotype at rs11066320 was associated with a per-allele odds ratio of 1.34 (95% confidence interval [CI], 1.19 to 1.52; P=2.9 × 10(-6)) in the total cohort of TOF cases and controls; this remained highly significant after Bonferroni correction for 207 analyses (corrected P=0.00061).
|
22503907 |
2012 |
|
rs387906769
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Two novel mutations in the coding region of GATA4 were identified, namely, 487C >T (Pro163Ser) in exon 1 in a child with tetralogy of Fallot and 1220C >A (Pro407Gln) in exon 6 in a pediatric patient with outlet membranous ventricular septal defect.
|
21110066 |
2010 |