All individuals with variants in gene NKX2-5

355 entries on 4 pages. Showing entries 1 - 100.
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Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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Owner     
00029031 MC096 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European >28y - yes pace maker CHD secundum atrial septal defect prolonged PR interval Mobitz II atrioventricular block atrial fibrillation 1 2 Patrice Bouvagnet
00029033 MC119 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European >10y - yes - CHD perimembranous ventricular septal defect first degree atrioventricular block 1 1 Patrice Bouvagnet
00029034 MC104 PubMed: El Malti 2016, Journal: El Malti 2016 - F no France European >54y - yes - CHD secundum atrial septal defect third degree atrioventricular block 1 1 Patrice Bouvagnet
00029035 MC146 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European >41y - yes - CHD, CMD, CMH secundum atrial septal defect, ventricular extrasystoles 1 1 Patrice Bouvagnet
00029036 MC131 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European >57y - yes implantable cardiac defibrillator CHTD4, CMD1A congestive heart failure, secundum atrial septal defect third degree atrioventricular block cataract pectus excavatum 1 1 Patrice Bouvagnet
00029037 MC169 PubMed: El Malti 2016, Journal: El Malti 2016 - F no France European >07y - yes - CHD secundum atrial septal defect Mobitz II atrioventricular block 1 1 Patrice Bouvagnet
00170818 02529 - - F ? Italy white 47y - - - HLHS2 recurrent miscarriage, atrial fibrillation, atrial flutter, left ventricular noncompaction, Brugada syndrome 1 1 Emanuele Micaglio
00228162 30611920-proband PubMed: Monaco 2018 proband, father had acute myocardial infarction M ? Italy - - - - see paper CMD ventricular arrhythmia (HP:0004308); aborted sudden cardiac death (HP:0031628); right bundle branch block, incomplete (HP:0011712); sinus tachycardia (HP:0011703); left ventricular hypertrophy, mild (HP:0001712); mildly reduced ejection fraction (HP:0012663); ventricular extrasystoles (HP:0006682); atrial enlargement 1 1 Jilani Jawaid
00266674 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD, TOF , JLNS: jervell and lange-nielsen syndrome 1 1 Liliana Dain
00266675 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD7 - 1 1 Liliana Dain
00266676 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD - 1 1 Liliana Dain
00266677 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD - 1 1 Liliana Dain
00266678 - PubMed: Abou Hassan 2015 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266679 - PubMed: Akçaboy 2008 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266680 - PubMed: Beffagna 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266681 - PubMed: Beffagna 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266682 - PubMed: Beffagna 2013 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266683 - PubMed: Beffagna 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266684 - PubMed: Belvís 2009 - - - - - - - - - - - 1 1 Liliana Dain
00266685 - PubMed: Belvís 2009 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266686 - PubMed: Belvís 2009 - - - - - - - - - - - 1 1 Liliana Dain
00266687 - PubMed: Benson 1999 - - - - - - - - - ASD7, CTHM, VSD - 1 1 Liliana Dain
00266688 - PubMed: Benson 1999 - - - - - - - - - ASD7, VSD - 1 1 Liliana Dain
00266689 - PubMed: Benson 1999 - - - - - - - - - ASD7, ATFB , tricuspid valve abnormality 1 1 Liliana Dain
00266690 - PubMed: Benson 1999 - - - - - - - - - ASD7, Ebstein anomaly , tricuspid valve abnormality 1 1 Liliana Dain
00266691 - PubMed: Benson 1999 - - - - - - - - - ASD7, TOF, VSD - 1 1 Liliana Dain
00266692 - PubMed: Benson 1999 - - - - - - - - - CCD - 1 1 Liliana Dain
00266693 - PubMed: Benson 1999 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266694 - PubMed: Benson 1999 - - - - - - - - - - - 1 1 Liliana Dain
00266695 - PubMed: Bermúdez-Jiménez 2017 - - - - - - - - - ASD, LVNC , pulmonary atresia with ventricular septal defect 1 1 Liliana Dain
00266696 - PubMed: Bjørnstad 2009 - - - - - - - - - ASD7, TOF, VSD - 1 1 Liliana Dain
00266697 - PubMed: Boldt 2010 - - - - - - - - - - - 1 1 Liliana Dain
00266698 - PubMed: Cao 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266699 - PubMed: Cao 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266700 - PubMed: Cao 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266701 - PubMed: Cao 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266702 - PubMed: Cao 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266703 - PubMed: Cao 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266704 - PubMed: Cao 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266705 - PubMed: Cao 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266706 - PubMed: Cao 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266707 - PubMed: Cerqueira 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266708 - PubMed: Cerqueira 2015 - - - - - - - - - - - 1 1 Liliana Dain
00266709 - PubMed: Chen 2010 - - - - - - - - - VSD - 1 1 Liliana Dain
00266710 - PubMed: Costa 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266711 - PubMed: Costa 2013 - - - - - - - - - ASD7, CMD, LVNC , tricuspid atresia 1 1 Liliana Dain
00266712 - PubMed: Costa 2013 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - 1 1 Liliana Dain
00266713 - PubMed: Costa 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266714 - PubMed: Costa 2013 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266715 - PubMed: Costa 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266716 - PubMed: Dargis 2016 - - - - - - - - - - - 1 1 Liliana Dain
00266717 - PubMed: De Luca 2010 - - - - - - - - - VSD - 1 1 Liliana Dain
00266718 - PubMed: De Luca 2011 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266719 - PubMed: Dentice 2006 - - - - - - - - - CHNG5 - 1 1 Liliana Dain
00266720 - PubMed: Dentice 2006 - - - - - - - - - AOVD1, ASD, CHNG5, coarctation, HLHS1, VSD - 1 1 Liliana Dain
00266721 - PubMed: Dentice 2006 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266722 - PubMed: Draus 2009 - - - - - - - - - - - 1 1 Liliana Dain
00266723 - PubMed: Draus 2009 - - - - - - - - - - - 1 1 Liliana Dain
00266724 - PubMed: Draus 2009 - - - - - - - - - ASD - 1 1 Liliana Dain
00266725 - PubMed: Draus 2009 - - - - - - - - - - - 1 1 Liliana Dain
00266727 - PubMed: El Malti 2016 - - - - - - - - - ASD7, CMD, CPVT, SUD - 1 1 Liliana Dain
00266731 - PubMed: El-Bouchikhi 2017 - - - - - - - - - ASD, AVSD, VSD - 1 1 Liliana Dain
00266732 - PubMed: Ellesøe 2016 - - - - - - - - - ASD7, VSD - 1 1 Liliana Dain
00266733 - PubMed: Elliott 2003 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome 1 1 Liliana Dain
00266734 - PubMed: Elliott 2003 - - - - - - - - - ATFB, TOF - 1 1 Liliana Dain
00266735 - PubMed: Esposito 2009 - - - - - - - - - CCD - 1 1 Liliana Dain
00266736 - PubMed: Esposito 2009 - - - - - - - - - CCD - 1 1 Liliana Dain
00266737 - PubMed: Esposito 2009 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266738 - PubMed: Freudenberg-Hua 2014 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266739 - PubMed: Freudenberg-Hua 2014 - - - - - - - - - ATFB, TOF - 1 1 Liliana Dain
00266740 - PubMed: Gioli-Pereira 2010 - - - - - - - - - Ebstein anomaly - 1 1 Liliana Dain
00266741 - PubMed: Gioli-Pereira 2010 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266742 - PubMed: Goldmuntz 2001 - - - - - - - - - TOF, VSD - 1 1 Liliana Dain
00266743 - PubMed: Goldmuntz 2001 - - - - - - - - - TOF - 1 1 Liliana Dain
00266744 - PubMed: Goldmuntz 2001 - - - - - - - - - ASD, CHNG5, coarctation, CTHM, HLHS1, TOF, VSD - 1 1 Liliana Dain
00266745 - PubMed: Goldmuntz 2001 - - - - - - - - - ATFB, TOF - 1 1 Liliana Dain
00266746 - PubMed: Granados-Riveron 2012 - - - - - - - - - ? pulmonic stenosis 1 1 Liliana Dain
00266747 - PubMed: Granados-Riveron 2012 - - - - - - - - - ASD - 1 1 Liliana Dain
00266748 - PubMed: Guntheroth 2012 - - - - - - - - - CCD - 1 1 Liliana Dain
00266749 - PubMed: Gutierrez-Roelens 2002 - - - - - - - - - - - 1 1 Liliana Dain
00266750 - PubMed: Gutierrez-Roelens 2002 - - - - - - - - - - - 1 1 Liliana Dain
00266751 - PubMed: Gutierrez-Roelens 2002 - - - - - - - - - ASD7, TAPVR - 1 1 Liliana Dain
00266752 - PubMed: Gutierrez-Roelens 2002 - - - - - - - - - ASD7, TOF, VSD , pulmonic stenosis; PDA 1 1 Liliana Dain
00266753 - PubMed: Gutierrez-Roelens 2002 - - - - - - - - - - - 1 1 Liliana Dain
00266754 - PubMed: Gutierrez-Roelens 2006 - - - - - - - - - ASD7 MVP: mitral valve prolapse 1 1 Liliana Dain
00266755 - PubMed: Hanley 2016 - - - - - - - - - ASD7, CMD, LVNC , tricuspid atresia 1 1 Liliana Dain
00266756 - PubMed: Hanley 2016 - - - - - - - - - ASD7, ATFB, CMD, VSD - 1 1 Liliana Dain
00266757 - PubMed: Hatemi 2011 - - - - - - - - - ASD7, SUD - 1 1 Liliana Dain
00266758 - PubMed: Hermanns 2011 - - - - - - - - - CHNG5 - 1 1 Liliana Dain
00266759 - PubMed: Hirayama-Yamada 2005 - - - - - - - - - ASD7 - 1 1 Liliana Dain
00266760 - PubMed: Hirayama-Yamada 2005 - - - - - - - - - ASD7, HLHS1, VSD , SSS: sick sinus syndrome 1 1 Liliana Dain
00266761 - PubMed: Hirayama-Yamada 2005 - - - - - - - - - ASD7 - 1 1 Liliana Dain
00266762 - PubMed: Hosoda 1999 - - - - - - - - - ASD7, SUD - 1 1 Liliana Dain
00266763 - PubMed: Huang 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266764 - PubMed: Huang 2013 - - - - - - - - - ATFB - 1 1 Liliana Dain
00266765 - PubMed: Huang 2013 - - - - - - - - - - - 1 1 Liliana Dain
00266766 - PubMed: Iascone 2012 - - - - - - - - - - - 1 1 Liliana Dain
00266767 - PubMed: Ikeda 2002 - - - - - - - - - ASD7 - 1 1 Liliana Dain
00266768 - PubMed: Izumi 2014 - - - - - - - - - AVSD, CTHM, RAI, TAPVR - 1 1 Liliana Dain
00266769 - PubMed: Kasahara 2000 - - - - - - - - - ASD7, CTHM, VSD - 1 1 Liliana Dain
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