Table 2 of Mishra, Mol Vis 2016; 22:1387-1404.
Gene | EntrezID | OMIM | Disease |
---|---|---|---|
ABCA4 | 24 | 248,200 | Stargardt disease 1 |
153,800 | age-related macular degeneration 2 | ||
604,116 | cone-rod dystrophy 3 | ||
601,718 | retinitis pigmentosa 19 | ||
CHM | 1121 | 303,100 | choroideremia |
COL5A2 | 1290 | 130,000 | Ehlers-Danlos syndrome, type I |
CRYBB1 | 1414 | 600,929 | cataract, pulvreulent included |
HPS1 | 3257 | 203,300 | Hermansky-Pudlak syndrome 1 |
NR2C2 | 7182 | risk for AMD | |
PDE6A | 5145 | 180,071 | retinitis pigmentosa, autosomal recessive |
PITPNA | 5306 | retinal degeneration | |
PPT1 | 5538 | 256,730 | neuronal ceroid lipofuscinosis 1 |
PROM1 | 8842 | 603,786 | Stargardt disease 4 |
604,365 | autosomal recessive retinal degeneration | ||
608,051 | retinal bull's eye macular dystrophy 2 | ||
604,365 | retinitis pigmentosa 41 | ||
SOD2 | 6648 | macular degeneration |