Heart Defects, Congenital Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

195 genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACE angiotensin I converting enzyme
ACP6 acid phosphatase 6, lysophosphatidic
ACVRL1 activin A receptor type II-like 1
ADAM18 ADAM metallopeptidase domain 18
ADD1 adducin 1 (alpha)
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHCYL2 adenosylhomocysteinase-like 2
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANK2 ankyrin 2, neuronal
APOE apolipoprotein E
ARHGDIG Rho GDP dissociation inhibitor (GDI) gamma
ATRX alpha thalassemia/mental retardation syndrome X-linked
AXIN1 axin 1
BAG6 BCL2-associated athanogene 6
BCL9 B-cell CLL/lymphoma 9
BCOR BCL6 corepressor
BHMT betaine--homocysteine S-methyltransferase
BHMT2 betaine--homocysteine S-methyltransferase 2
BMPR1A bone morphogenetic protein receptor, type IA
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CAPN10 calpain 10
CAT catalase
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CD44 CD44 molecule (Indian blood group)
CFC1 cripto, FRL-1, cryptic family 1
CHD1L chromodomain helicase DNA binding protein 1-like
CHD7 chromodomain helicase DNA binding protein 7
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CMA1 chymase 1, mast cell
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CRELD1 cysteine-rich with EGF-like domains 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSF1R colony stimulating factor 1 receptor
CTHRC1 collagen triple helix repeat containing 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
DHFR dihydrofolate reductase
DNMT3L DNA (cytosine-5-)-methyltransferase 3-like
DUSP1 dual specificity phosphatase 1
ELN elastin
ENG endoglin
ENOSF1 enolase superfamily member 1
EPPK1 epiplakin 1
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FBLN1 fibulin 1
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FKBP6 FK506 binding protein 6, 36kDa
FLNA filamin A, alpha
FMO5 flavin containing monooxygenase 5
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOLR2 folate receptor 2 (fetal)
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GCLC glutamate-cysteine ligase, catalytic subunit
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
GPR35 G protein-coupled receptor 35
GPX6 glutathione peroxidase 6
GSTA1 glutathione S-transferase alpha 1
GSTM1 glutathione S-transferase mu 1
GSTM3 glutathione S-transferase mu 3 (brain)
GSTO1 glutathione S-transferase omega 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HHEX hematopoietically expressed homeobox
HOXC4 homeobox C4
HOXC5 homeobox C5
HOXC9 homeobox C9
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IRX4 iroquois homeobox 4
ISL1 ISL LIM homeobox 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAG1 jagged 1
JUN jun proto-oncogene
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KRAS Kirsten rat sarcoma viral oncogene homolog
LEF1 lymphoid enhancer-binding factor 1
MAML3 mastermind-like 3 (Drosophila)
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAT2A methionine adenosyltransferase II, alpha
MBL2 mannose-binding lectin (protein C) 2, soluble
MED15 mediator complex subunit 15
MED9 mediator complex subunit 9
MESP1 mesoderm posterior basic helix-loop-helix transcription factor 1
MFAP4 microfibrillar-associated protein 4
MGMT O-6-methylguanine-DNA methyltransferase
MID1 midline 1
MIR146A microRNA 146a
MIR149 microRNA 149
MIR196A2 microRNA 196a-2
MIR218-2 microRNA 218-2
MIR499A microRNA 499a
MSX1 msh homeobox 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTHFS 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYLK myosin light chain kinase
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX2-5 NK2 homeobox 5
NNMT nicotinamide N-methyltransferase
NODAL nodal growth differentiation factor
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHP4 nephronophthisis 4
NPPA natriuretic peptide A
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRG1 neuregulin 1
NRP1 neuropilin 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PARP10 poly (ADP-ribose) polymerase family, member 10
PBX3 pre-B-cell leukemia homeobox 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PDIA2 protein disulfide isomerase family A, member 2
PITX2 paired-like homeodomain 2
PLEC plectin
PLXNA1 plexin A1
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
PRRC2A proline-rich coiled-coil 2A
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
REXO4 REX4, RNA exonuclease 4 homolog (S. cerevisiae)
RFC1 replication factor C (activator 1) 1, 145kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RUNX1 runt-related transcription factor 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERTAD1 SERTA domain containing 1
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC19A1 solute carrier family 19 (folate transporter), member 1
SMAD7 SMAD family member 7
SMC1A structural maintenance of chromosomes 1A
SNAI2 snail family zinc finger 2
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPATA17 spermatogenesis associated 17
STX18 syntaxin 18
TBX1 T-box 1
TBX15 T-box 15
TBX20 T-box 20
TBX5 T-box 5
TCN2 transcobalamin II
TERC telomerase RNA component
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TLL1 tolloid-like 1
TMEM121 transmembrane protein 121
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TOP2A topoisomerase (DNA) II alpha 170kDa
TRDMT1 tRNA aspartic acid methyltransferase 1
TYMS thymidylate synthetase
VEGFA vascular endothelial growth factor A
VKORC1 vitamin K epoxide reductase complex, subunit 1
ZBTB16 zinc finger and BTB domain containing 16
ZBTB21 zinc finger and BTB domain containing 21
ZEB2 zinc finger E-box binding homeobox 2
ZFHX4 zinc finger homeobox 4
ZIC3 Zic family member 3