| 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 |
| Similar Terms | |
| Downloads & Tools |
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 |
