Aniridia 1 (AN1)

Aniridia 1, also known as aniridia, is related to gillespie syndrome and isolated aniridia. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Mesodermal commitment pathway. Affiliated tissues include eye and kidney, and related phenotypes are hypoplasia of the iris and corneal erosion