Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.

ABSTRACT: Uni- or bilateral renal agenesis (RA) is a commonly occurring major congenital anomaly impacting fetal and neonatal outcomes. Since the etiology is highly heterogeneous, our aim was to provide a logically structured approach by highlighting the genes in which variants have been identified to be associated with RA and to define the pathways involved in this type of abnormal kidney development. We used Phenolyzer to collect a list of all the genes known as causative for RA. Using ClueGO gene enrichment analysis, we classified the relationship between these genes and the biological processes defined by gene ontology. We identified 287 genes and 69 groups of enriched biological processes. About 50% included pathways directly related to the development of urogenital organ tissues. Several cilia

SUBMITTER: Kalantari S 

PROVIDER: S-EPMC8613581 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature