Conotruncal Defect Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. (Human Phenotype Ontology, HP_0001710)
External Link https://www.disgenet.org/browser/0/1/0/C1853238
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Genes

46 genes associated with the disease Conotruncal Defect in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CHD7 chromodomain helicase DNA binding protein 7
CHDH choline dehydrogenase
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DHFR dihydrofolate reductase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GCLC glutamate-cysteine ligase, catalytic subunit
GDF1 growth differentiation factor 1
GLRX glutaredoxin (thioltransferase)
GSR glutathione reductase
GSTA3 glutathione S-transferase alpha 3
GSTK1 glutathione S-transferase kappa 1
GSTM3 glutathione S-transferase mu 3 (brain)
HIRA histone cell cycle regulator
HPGDS hematopoietic prostaglandin D synthase
ISL1 ISL LIM homeobox 1
KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4
MED13L mediator complex subunit 13-like
MGST1 microsomal glutathione S-transferase 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NNMT nicotinamide N-methyltransferase
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
PTH parathyroid hormone
REC8 REC8 meiotic recombination protein
RFC1 replication factor C (activator 1) 1, 145kDa
SIX1 SIX homeobox 1
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC22A10 solute carrier family 22, member 10
SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
TBX1 T-box 1
TBX2 T-box 2
TBX3 T-box 3
TCN2 transcobalamin II
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TYMS thymidylate synthetase
VEGFA vascular endothelial growth factor A
ZFPM2 zinc finger protein, FOG family member 2