Disease #01046 (CTHM (heart malformations,conotruncal (CTHM)), OMIM:217095)

Official abbreviation CTHM
Name heart malformations,conotruncal (CTHM)
OMIM ID 217095
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 5 genes GATA6, GDF1, NKX2-5, NKX2-6, TBX1
Associated tissues -
Disease features -
Remarks -


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00266678 - PubMed: Abou Hassan 2015 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266679 - PubMed: Akçaboy 2008 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266682 - PubMed: Beffagna 2013 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266685 - PubMed: Belvís 2009 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266687 - PubMed: Benson 1999 - - - - - - 0 - - ASD7, CTHM, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266693 - PubMed: Benson 1999 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266714 - PubMed: Costa 2013 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266718 - PubMed: De Luca 2011 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266721 - PubMed: Dentice 2006 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266737 - PubMed: Esposito 2009 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266738 - PubMed: Freudenberg-Hua 2014 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266741 - PubMed: Gioli-Pereira 2010 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266744 - PubMed: Goldmuntz 2001 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266768 - PubMed: Izumi 2014 - - - - - - 0 - - AVSD, CTHM, RAI, TAPVR - NKX2-5 NKX2-5 1 1 Liliana Dain
00266769 - PubMed: Kasahara 2000 - - - - - - 0 - - ASD7, CTHM, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266778 - PubMed: Kasahara 2000 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266788 - PubMed: Khatami 2017 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266827 - PubMed: McElhinney 2003 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266839 - PubMed: Porto 2010 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266845 - PubMed: Pulignani 2018 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266852 - PubMed: Rauch 2010 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266902 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266941 - PubMed: Reamon-Buettner 2004 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266953 - PubMed: Salazar 2011 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266963 - PubMed: Stallmeyer 2010 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266975 - PubMed: Vega 2016 - - - - - - 0 - - ASD, CHNG5, coarctation, CTHM, HLHS, TOF, VSD - NKX2-5 NKX2-5 1 1 Liliana Dain
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