Retinal Coloboma

About the Disease
Retinochoroidal Coloboma, also known as coloboma of choroid and retina, is related to papillorenal syndrome and coloboma, ocular, autosomal dominant. An important gene associated with Retinochoroidal Coloboma is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Mesodermal commitment pathway and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include retina, eye and pituitary, and related phenotypes are embryo and digestive/alimentary

Common Targets
PAX2

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