Infantile hypertrophic pyloric stenosis Gene Set

Dataset GWAS Catalog SNP-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition. (Experimental Factor Ontology, EFO_0004707)
External Link https://www.ebi.ac.uk/gwas/search?query=Infantile hypertrophic pyloric stenosis
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Genes

2 genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Symbol Name Standardized Value
APOA1 apolipoprotein A-I 0.572839
SIK3 SIK family kinase 3 0.342586