conotruncal defect Gene Set

Dataset GWASdb SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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11 genes associated with the conotruncal defect phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
HECTD4 HECT domain containing E3 ubiquitin protein ligase 4 1.31017
GPC5 glypican 5 1.30781
NAA25 N(alpha)-acetyltransferase 25, NatB auxiliary subunit 1.23237
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.20113
ATXN2 ataxin 2 1.15067
SH2B3 SH2B adaptor protein 3 1.1396
NRP1 neuropilin 1 1.12851
RARRES1 retinoic acid receptor responder (tazarotene induced) 1 1.01065
FMN1 formin 1 0.813733
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.647116
ZNF532 zinc finger protein 532 0.572823