Condition: CONOTRUNCAL HEART MALFORMATIONS (disorder)


rs387906813 in GATA6 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 19666519 2009 GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.

rs121434423 in GDF1;CERS1 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 17924340 2007 Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.

rs17189763 in HCG21 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs2517582 in LINC02570 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs2267386 in LOC105373029;KCNJ4 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 24800985 2014 Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

rs6886261 in LOC105374748;LOC648987 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs6763159 in LOC105377110 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 24800985 2014 Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

rs146189703 in LOC105377552 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs267606914 in NKX2-6;LOC107986930 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 24421281 2014 Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

PMID 15649947 2005 Common arterial trunk associated with a homeodomain mutation of NKX2.6.

PMID 25195019 2014 Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.

PMID 25380965 2015 A novel NKX2.6 mutation associated with congenital ventricular septal defect.

rs4366490 in SLC22A10;SLC22A24 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 24800985 2014 Genome-wide association study of maternal and inherited loci for conotruncal heart defects.

rs74461473 in SLC38A3 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 28468790 2017 Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

rs121908601 in ZFPM2 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 20807224 2011 New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.