Gene ontology enrichment analysis of congenital diaphragmatic hernia-associated genes.

ABSTRACT: Congenital diaphragmatic hernia (CDH) is a commonly occurring major congenital anomaly with a profound impact on neonatal mortality. The etiology of CDH is poorly understood and is complicated by multiple clinical presentations, reflecting the location and type of diaphragm defect. With the increased power of genetic screening, more genes are being associated with CDH, creating a knowledge gap between CDH-associated genes and their contribution to diaphragm embryogenesis. Our goal was to investigate CDH-associated genes and identify common pathways that may lead to abnormal diaphragm development. A comprehensive list of CDH-associated genes was identified from the literature and categorized according to multiple factors, including type of CDH. We undertook a large-scale gene function analy

SUBMITTER: Dalmer TRA 

PROVIDER: S-EPMC6760551 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature