Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ALDH1A2 gene ALDH1A2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Pavan (2009) BMC Med Genet 10, 113) DOI: 10.1186/1471-2350-10-113 False 1 0;0;0 1.90 False ENSG00000128918 ENSG00000128918 HGNC:15472 CITED2 gene CITED2 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect, 8 614433, Ventricular septal defect 2, 614431 24848765, 16287139 False 1 0;0;100 1.90 False ENSG00000164442 ENSG00000164442 HGNC:1987 CRKL gene CRKL Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Tomita-Mitchell (2012) Physiol Genomics 44,518) PMID: 22318994 False 1 0;0;0 1.90 False ENSG00000099942 ENSG00000099942 HGNC:2363 DISP1 gene DISP1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Craniofacial and neuro-developmental abnormalities (Roessler (2009) Hum Genet125,393);Diaphragmatic hernia, congenital (Kantarci (2010) Am J Med Genet A 152A,2493);Tetralogy of Fallot (Silversides (2012) PLoS Genet 8, e1002843) False 1 0;0;100 1.90 False ENSG00000154309 ENSG00000154309 HGNC:19711 FLT4 gene FLT4 Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot PMID:28991257 False 1 50;50;0 1.90 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXH1 gene FOXH1 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Venticular septal defect, transposition of the great arteries 19525021, 19933292 False 1 0;0;100 1.90 False ENSG00000160973 ENSG00000160973 HGNC:3814 FOXL1 gene FOXL1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Hypoplastic left heart syndrome (Iascone (2012) Clin Genet 81,542) DOI: 10.1111/j.1399-0004.2011.01674.x False 1 0;0;100 1.90 False ENSG00000176678 ENSG00000176678 HGNC:3817 GJA1 gene GJA1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Hypoplastic left heart syndrome 1, OMIM:241550;Atrioventricular septal defect 3, OMIM:600309 False 1 0;0;100 1.90 False ENSG00000152661 ENSG00000152661 HGNC:4274 HAND2 gene HAND2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Topf (2014) PLoS One 9,e95453) http://dx.doi.org/10.1371/journal.pone.0095453 False 1 0;0;100 1.90 False ENSG00000164107 ENSG00000164107 HGNC:4808 IRX4 gene IRX4 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular septal defect 21544582 False 1 0;0;100 1.90 False ENSG00000113430 ENSG00000113430 HGNC:6129 MED13L gene MED13L Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Transposition of the great arteries, dextro-looped 1, 608808 False 1 0;0;100 1.90 False ENSG00000123066 ENSG00000123066 HGNC:22962 MYOM2 gene MYOM2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Grunert (2014) Hum Mol Genet 23,3115) doi: 10.1093/hmg/ddu021. False 1 0;0;100 1.90 False ENSG00000036448 ENSG00000036448 HGNC:7614 NFATC1 gene NFATC1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Silversides (2012) PLoS Genet 8) http://dx.doi.org/10.1371/journal.pgen.1002843 False 1 0;0;100 1.90 False ENSG00000131196 ENSG00000131196 HGNC:7775 NKX2-6 gene NKX2-6 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Conotruncal heart malformations 217095, Persistent truncus arteriosus 217095 15649947, 24421281 False 1 0;0;100 1.90 False ENSG00000180053 ENSG00000180053 HGNC:32940 PLXND1 gene PLXND1 Expert Review Red;Literature Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Truncus arteriosus 25713110 False 1 0;0;100 1.90 False ENSG00000004399 ENSG00000004399 HGNC:9107 RPSA gene RPSA Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asplenia, isolated congenital, 271400 False 1 0;0;100 1.90 True ENSG00000168028 ENSG00000168028 HGNC:6502 SEMA3D gene SEMA3D Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot (Siversides (2012) PLoS Genet 8,e1002843) http://dx.doi.org/10.1371/journal.pgen.1002843 False 1 0;0;100 1.90 False ENSG00000153993 ENSG00000153993 HGNC:10726 SMAD6 gene SMAD6 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 2, 614823 22275001 False 1 0;0;100 1.90 False ENSG00000137834 ENSG00000137834 HGNC:6772 TBX1 gene TBX1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders Tetralogy of Fallot False 1 0;50;50 1.90 False ENSG00000184058 ENSG00000184058 HGNC:11592 ZFPM2 gene ZFPM2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial non syndromic congenital heart disease Congenital heart disease Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot, OMIM:187500 False 1 0;0;100 1.90 False ENSG00000169946 ENSG00000169946 HGNC:16700