Disease #04204

Official abbreviation ASD
Name septal defect, atrial (ASD)
OMIM ID -
Inheritance -
Individuals reported having this disease 81
Phenotype entries for this disease 83
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

81 entries on 1 page. Showing entries 1 - 81.
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00001464 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - ASD, IP-2 - IKBKG IKBKG 1 1 Francesca Fusco
00001480 - - - F ? ? (unknown) - - 0 - - ASD, IP-2, VSD - IKBKG IKBKG 1 1 Francesca Fusco
00001482 - - - ? ? ? (unknown) - - 0 - - ASD, IP-2 - IKBKG IKBKG 1 1 Francesca Fusco
00032403 - PubMed: Yuan 2013, Journal: Yuan 2013 - M - China Chinese, Han >12y 0 - - ASD - PITX2 PITX2 1 1 Johan den Dunnen
00032404 - PubMed: Yuan 2013, Journal: Yuan 2013 - F - China Chinese, Han >03y 0 - - ASD no malformations eyes/teeth/umbilicus PITX2 PITX2 1 1 Johan den Dunnen
00104965 27866708-Fam1Pat1/2 PubMed: Bi 2012, Journal: Bi 2012 - - - - white - 0 - - ASD autism spectrum disorder ABCA1 ABCA1 1 1 Johan den Dunnen
00266674 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD, TOF , JLNS: jervell and lange-nielsen syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266676 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266677 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266678 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266679 - PubMed: Akçaboy 2008 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266682 - PubMed: Beffagna 2013 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266685 - PubMed: Belvís 2009 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266693 - PubMed: Benson 1999 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266695 - PubMed: Bermúdez-Jiménez 2017 - - - - - - 0 - - ASD, LVNC , pulmonary atresia with ventricular septal defect NKX2-5 NKX2-5 1 1 Liliana DAIN
00266712 - PubMed: Costa 2013 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266714 - PubMed: Costa 2013 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266718 - PubMed: De Luca 2011 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266720 - PubMed: Dentice 2006 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266721 - PubMed: Dentice 2006 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266724 - PubMed: Draus 2009 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266731 - PubMed: El-Bouchikhi 2017 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266737 - PubMed: Esposito 2009 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266738 - PubMed: Freudenberg-Hua 2014 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266741 - PubMed: Gioli-Pereira 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266744 - PubMed: Goldmuntz 2001 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266747 - PubMed: Granados-Riveron 2012 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266778 - PubMed: Kasahara 2000 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266788 - PubMed: Khatami 2017 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266814 - PubMed: Mattapally 2018 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266825 - PubMed: McElhinney 2003 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266827 - PubMed: McElhinney 2003 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266830 - PubMed: McElhinney 2003 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266839 - PubMed: Porto 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266845 - PubMed: Pulignani 2018 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266851 - PubMed: Rauch 2010 - - - - - - 0 - - ASD, TOF , JLNS: jervell and lange-nielsen syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266852 - PubMed: Rauch 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266855 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266858 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266862 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266865 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266866 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266880 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266887 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266888 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266891 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266893 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266894 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266895 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266902 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266909 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266911 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266913 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266915 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266916 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266927 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266929 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266930 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266932 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266934 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266935 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266936 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266941 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266948 - PubMed: Reamon-Buettner 2013 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266953 - PubMed: Salazar 2011 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266963 - PubMed: Stallmeyer 2010 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266966 - PubMed: Tang 2016 - - - - - - 0 - - ASD, AVSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266967 - PubMed: Tian 2008 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266968 - PubMed: Tian 2008 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266969 - PubMed: Tian 2008 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266972 - PubMed: Uysal 2017 - - - - - - 0 - - ASD, TOF , JLNS: jervell and lange-nielsen syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266973 - PubMed: van Engelen 2012 - - - - - - 0 - - ASD, TOF , JLNS: jervell and lange-nielsen syndrome NKX2-5 NKX2-5 1 1 Liliana DAIN
00266974 - PubMed: van Engelen 2012 - - - - - - 0 - - AOVD-1, ASD, CHNG-5, coarctation, HLHS, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266975 - PubMed: Vega 2016 - - - - - - 0 - - ASD, CHNG-5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266977 - PubMed: Wang 2011 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266981 - PubMed: Wang 2011 - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267012 - ClinVar - - - - - - 0 - - ASD, CMD, LVNC, VF - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267014 - ClinVar - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267015 - ClinVar - - - - - - 0 - - ASD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00300269 Pt5519 Submitted to Human Mutation - F no France - >42y 0 - - ASD Atrial Septal Aneurysm, Mitral Valve Prolaps TAB2 TAB2 1 2 Patrice Bouvagnet
00300270 Pt5518 Submitted to Human Mutation - F no France - >18y 0 - - ASD Atrial Septal Defect, Mitral Valve Prolaps TAB2 TAB2 1 3 Patrice Bouvagnet
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