Tetralogy Of Fallot Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_6419)
External Link https://www.disgenet.org/browser/0/1/0/C0039685
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Genes

265 genes associated with the disease Tetralogy Of Fallot in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AATF apoptosis antagonizing transcription factor
ACE angiotensin I converting enzyme
ACKR3 atypical chemokine receptor 3
ACSM3 acyl-CoA synthetase medium-chain family member 3
ACTC1 actin, alpha, cardiac muscle 1
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALX1 ALX homeobox 1
ALX3 ALX homeobox 3
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATXN2 ataxin 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
BMP10 bone morphogenetic protein 10
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRS3 bombesin-like receptor 3
BVES blood vessel epicardial substance
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CCDC22 coiled-coil domain containing 22
CD48 CD48 molecule
CDON cell adhesion associated, oncogene regulated
CERS1 ceramide synthase 1
CHD1L chromodomain helicase DNA binding protein 1-like
CHD4 chromodomain helicase DNA binding protein 4
CHD7 chromodomain helicase DNA binding protein 7
CHDH choline dehydrogenase
CHMP5 charged multivesicular body protein 5
CHRM3 cholinergic receptor, muscarinic 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CORO7 coronin 7
COX1
COX2
COX3
CRELD1 cysteine-rich with EGF-like domains 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRP C-reactive protein, pentraxin-related
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR6 chemokine (C-X-C motif) receptor 6
CYBA cytochrome b-245, alpha polypeptide
DACT1 dishevelled-binding antagonist of beta-catenin 1
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DGCR8 DGCR8 microprocessor complex subunit
DICER1 dicer 1, ribonuclease type III
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL4 delta-like 4 (Drosophila)
DMD dystrophin
DNAH5 dynein, axonemal, heavy chain 5
DNAH8 dynein, axonemal, heavy chain 8
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DNTT DNA nucleotidylexotransferase
DOCK1 dedicator of cytokinesis 1
DOCK6 dedicator of cytokinesis 6
DVL2 dishevelled segment polarity protein 2
EDNRA endothelin receptor type A
EGF epidermal growth factor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPHB4 EPH receptor B4
ERCC4 excision repair cross-complementation group 4
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FBN2 fibrillin 2
FEZF2 FEZ family zinc finger 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLT4 fms-related tyrosine kinase 4
FN1 fibronectin 1
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FOXH1 forkhead box H1
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GAS1 growth arrest-specific 1
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GLI2 GLI family zinc finger 2
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC5 glypican 5
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HDAC8 histone deacetylase 8
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIBCH 3-hydroxyisobutyryl-CoA hydrolase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HOXA1 homeobox A1
INTU inturned planar cell polarity protein
INVS inversin
IQGAP1 IQ motif containing GTPase activating protein 1
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
JMJD1C jumonji domain containing 1C
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDR kinase insert domain receptor
KIAA0195 KIAA0195
LAMP3 lysosomal-associated membrane protein 3
LIMK1 LIM domain kinase 1
LPA lipoprotein, Lp(a)
LPAR2 lysophosphatidic acid receptor 2
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
LSAMP limbic system-associated membrane protein
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP4 microtubule-associated protein 4
MAVS mitochondrial antiviral signaling protein
MBD2 methyl-CpG binding domain protein 2
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MEIS2 Meis homeobox 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYL4 myosin, light chain 4, alkali; atrial, embryonic
MYRF myelin regulatory factor
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit
NID1 nidogen 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NKX2-6 NK2 homeobox 6
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
NPPB natriuretic peptide B
NR2F2 nuclear receptor subfamily 2, group F, member 2
NRP1 neuropilin 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXN nucleoredoxin
OPRD1 opioid receptor, delta 1
PAH phenylalanine hydroxylase
PALB2 partner and localizer of BRCA2
PBX1 pre-B-cell leukemia homeobox 1
PBX3 pre-B-cell leukemia homeobox 3
PDGFA platelet-derived growth factor alpha polypeptide
PECAM1 platelet/endothelial cell adhesion molecule 1
PFKL phosphofructokinase, liver
PHC1 polyhomeotic homolog 1 (Drosophila)
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PITX2 paired-like homeodomain 2
PLN phospholamban
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PTCH1 patched 1
PTH parathyroid hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVR poliovirus receptor
RAB23 RAB23, member RAS oncogene family
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
REC8 REC8 meiotic recombination protein
REN renin
RERE arginine-glutamic acid dipeptide (RE) repeats
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RFWD3 ring finger and WD repeat domain 3
RGS6 regulator of G-protein signaling 6
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPH3A rabphilin 3A
RPL5 ribosomal protein L5
RREB1 ras responsive element binding protein 1
RXRA retinoid X receptor, alpha
RYR2 ryanodine receptor 2 (cardiac)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCO2 SCO2 cytochrome c oxidase assembly protein
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH2B3 SH2B adaptor protein 3
SHH sonic hedgehog
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1
SLN sarcolipin
SLX4 SLX4 structure-specific endonuclease subunit
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNAI2 snail family zinc finger 2
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SSTR4 somatostatin receptor 4
STRA6 stimulated by retinoic acid 6
SUFU suppressor of fused homolog (Drosophila)
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SUN2 Sad1 and UNC84 domain containing 2
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TADA2A transcriptional adaptor 2A
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX20 T-box 20
TBX5 T-box 5
TCF21 transcription factor 21
TDGF1 teratocarcinoma-derived growth factor 1
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TFAP2C transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)
TGFB1 transforming growth factor, beta 1
TGIF1 TGFB-induced factor homeobox 1
TPM1 tropomyosin 1 (alpha)
TSPYL2 TSPY-like 2
TTC37 tetratricopeptide repeat domain 37
TTN titin
UBE2A ubiquitin-conjugating enzyme E2A
UBE2T ubiquitin-conjugating enzyme E2T
UFD1 ubiquitin recognition factor in ER associated degradation 1
VAC14 Vac14 homolog (S. cerevisiae)
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
VIM vimentin
WASHC5 WASH complex subunit 5
WNT11 wingless-type MMTV integration site family, member 11
WT1 Wilms tumor 1
WWP2 WW domain containing E3 ubiquitin protein ligase 2
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZFPM2 zinc finger protein, FOG family member 2
ZIC2 Zic family member 2