| Affected Tissue/Organ | Chromosome | Gene Product | Gene Symbol | # of Mutation Entry | Disease Name | Curator | |
|
retina | 1 | ATP-binding Transporter | ABCR | 24 | Stargardt Disease Type 1 | Keio Univ. DMB. |
|
retina | 2 | Cyclic Nucleotide-Gated Channel, alpha-3 | CNGA3 | 11 | total color blindness | Keio Univ. DMB. |
|
retina | 3 | Rhodopsin | RHO | 103 | Congenital Stationary Night Blindness | Keio Univ. DMB. |
|
Retinitis Pigmentosa | ||||||
|
retina | 4 | Phosphodiesterase 6B | PDE6B | 9 | Congenital Stationary Night Blindness | Keio Univ. DMB. |
|
Retinitis Pigmentosa | ||||||
|
retina | 4 | cGMP-gated Cation Channel | CNCG1/CNGA1 | 5 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
retina | 5 | Phosphodiesterase 6A | PDE6A | 3 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
retina | 11 | Membrane Protein 1 | ROM1 | 4 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
retina | 13 | RB1 Protein | RB1 | 229 | Retinoblastoma | Keio Univ. DMB. |
|
retina | 13 | Rhodopsin Kinase | RHOK | 3 | Oguchi disease | Keio Univ. DMB. |
|
retina | X | Retinitis Pigmentosa GTPase Regulator (RPGR) | RP3 | 8 | Retinitis Pigmentosa | Keio Univ. DMB. |
|
cornea | 9 | Gelsolin | GSN | 6 | Corneal Dystrophy, Familial Amyloidosis of Finnish Type | Keio Univ. DMB. |
|
cornea | 5 | transforming growth factor, beta-induced (keratoepithelin) | TGFBI | 12 | corneal dystrophy of Avellino type; ACD | Keio Univ. DMB. |
|
corneal dystrophy of lattice type 1; CDL1 | ||||||
|
corneal dystrophy type IIIA; LCDIIIA | ||||||
|
granular corneal dystrophy of Groenouw type 1; CDGG1 | ||||||
|
Reis-Bucklers' corneal dystrophy; CDRB | ||||||
|
Gelatinous droplike dystrophy; GDLD | ||||||
|
choroid | X | Rab Escort Protein-1 (REP-1) | CHM | 56 | Choroideremia | Keio Univ. DMB. |
|
ganglion cell layer | 2 | Cytochrome P450 1B1 | CYP1B1 | 7 | Primary Congenital Glaucoma | Keio Univ. DMB. |
Multi- tissue/organ |
ganglion cell layer, angle, trabecular meshwork | 1 | Myocilin/Trabecular Meshwork Induced Glucocorticoid Responsive Protein (TIGR) | MYOC | 57 | Primary Open Angle Glaucoma | Keio Univ. DMB. |
Multi- tissue/organ |
macula, retina | X | XLRS1 Protein | RS1 | 16 | X-linked Retinoschisis | Keio Univ. DMB. |
Multi- tissue/organ |
macula, retina, fovea centralis | 6 | Peripherin | RDS | 30 | Cone-Rod Dystrophy | Keio Univ. DMB. |
|
Foveal Dystrophy | ||||||
|
Pattern Dystrophy | ||||||
|
Widespread Retinal Degeneration with More Pronounced Pericentral Component | ||||||
|
Foveamacular Dystrophy | ||||||
|
Macular Dystrophy | ||||||
|
Vitelliform Macular Dystrophy | ||||||
|
Retinitis Punctata Albescens | ||||||
|
Retinitis Pigmentosa | ||||||
|
lens | 13 | gap junction protein, alpha 3, 46kDa (connexin 46) | GJA3 | 2 | Congenital cataract | Keio Univ. DMB. |
|
lens | 22 | crystallin, beta B2 | CRYBB2 | 2 | Coppock-like cataract | Keio Univ. DMB. |
|
Cerulean cataract |