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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
  1. * = overlap with RetNet gene; Underline = overlap with a different retinal dystrophy; Bold = literature support