Condition: Tetralogy of Fallot


rs653178 in ATXN2 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs1057515420 in EPHB4 gene and Tetralogy of Fallot PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

rs387906814 in GATA6 gene and Tetralogy of Fallot PMID 20631719 2010 A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

PMID 20581743 2010 Identification of GATA6 sequence variants in patients with congenital heart defects.

PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs121434424 in GDF1;CERS1 gene and Tetralogy of Fallot PMID 17924340 2007 Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

rs7982677 in GPC5 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs4771856 in GPC5;GPC5-AS2 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs11066188 in HECTD4 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs28939668 in JAG1 gene and Tetralogy of Fallot PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 11152664 2001 Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

rs2388896 in LINC02676 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs17696736 in NAA25 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs104893902 in NKX2-5 gene and Tetralogy of Fallot PMID 11714651 2001 NKX2.5 mutations in patients with tetralogy of fallot.

PMID 14607454 2003 NKX2.5 mutations in patients with congenital heart disease.

PMID 10587520 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

rs774966208 in NOTCH1 gene and Tetralogy of Fallot PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 27760138 2016 Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

rs2228638 in NRP1 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs11066320 in PTPN11 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs233716 in RPH3A gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs3184504 in SH2B3;ATXN2 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs1114167357 in TPM1 gene and Tetralogy of Fallot PMID 28359939 2017 Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

rs121908601 in ZFPM2 gene and Tetralogy of Fallot PMID 20807224 2011 New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.

PMID 14517948 2003 Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.