Leber Congenital Amaurosis 17 (LCA17)

Leber Congenital Amaurosis 17, also known as lca17, is related to klippel-feil syndrome 1 and synostoses, tarsal, carpal, and digital. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are p70S6K Signaling and G-protein signaling RAC1 in cellular process. Affiliated tissues include retina and eye, and related phenotypes are ultra-low vision with retained motion projection and Increased shRNA abundance (Z-score > 2)