Table 3 The top-ten predictions for four inherited retinal dystrophies
From: DIGNiFI: Discovering causative genes for orphan diseases using protein-protein interaction networks
Disease/Syndrome | Description | # of Known genes | Top 10 predictions | Missing |
|---|---|---|---|---|
Retinitis pigmentosa | A collection of blinding conditions involving bilateral degerneration of rod and cone photoreceptors and resulting in progressive vision loss. Symptoms generally begin in childhood with the loss of peripheral vision, and most patients are legally blind by the age of 40 | 44 | BBS4, GNAT1, RORB, MYO7A, MKKS, RBP4, PAX6, RPGRIP1, CDH23, MYO5A | ARL3, HK1 |
Leber congenital amaurosis | A disease involving early degeneration of the retina as well as defects in the cornea and leading to severe vision loss in infancy | 9 | RBP4, BBS4, RGS9, GNAT1, RPGR, USH2A, CNGB1, RHO, RP1, ARL6 | none |
Usher syndrome type 1 | A form of retinitis pigmentosa that involves hearing impairment in addition to vision loss | 5 | DFNB31*, USH2A*, CLIC5, MYO3A, MYO15A, KPTN, IQCB1, BBS4, RP1, NPHP4 | CEP250, HARS |
Congenital stationary night blindness | A non-progressive, inherited disorder of the retina that from birth causes a number of vision problems, including difficulty seeing in low light conditions | 8 | CNGA1, GUCY2F, CNGB1, RCVRN, RGS9, OPN4, RP1, RPE65, GNB1, OPN1LW | GNB3, RDH5 |