Conotruncal heart defects Gene Set

Dataset GWAS Catalog 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)
External Link https://www.ebi.ac.uk/gwas/search?query=Conotruncal heart defects
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Genes

4 genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
SLC22A24 solute carrier family 22, member 24 0.220915
KCNJ4 potassium channel, inwardly rectifying subfamily J, member 4 0.220915
PAPPA pregnancy-associated plasma protein A, pappalysin 1 0.129504
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 0.104568