Table 5.
Eye Disease Genes with ESTs in ON.
| Gene | # | Disease | Omim |
| PLP1 | 41 | Pelizaeus-Merzbacher Disease | 312080 |
| CRYAB | 5 | Cataract, Posterior Polar, 2 | 123590 |
| ITM2B | 5 | Dementia, Familial Danish | 117300 |
| EFEMP1 | 4 | Doyne Honeycomb Retinal Dystrophy | 126600 |
| GJA1 | 4 | Oculodentodigital Dysplasia | 164200 |
| FGFR2 | 3 | Crouzon Syndrome | 123500 |
| DCN | 2 | Corneal Dystrophy, Congenital Stromal | 610048 |
| GSN | 2 | Corneal Dystrophy, Lattice Type1 | 122200 |
| APC | 1 | Adenomatous Polyposis Of The Colon | 175100 |
| COL4A5 | 1 | Alport Syndrome | 301050 |
| SOX2 | 1 | Anophthalmos, True Or Primary | 206900 |
| BBS4 | 1 | Bardet-Biedl Syndrome 4 | 209900 |
| TTC8 | 1 | Bardet-Biedl Syndrome 8 | 209900 |
| CLN5 | 1 | Ceroid Lipofuscinosis, Neuronal 5 | 256731 |
| ARSE | 1 | Chondrodysplasia Punctata 1 | 302950 |
| EBP | 1 | Chondrodysplasia Punctata 2, X-Linked Dominant | 302960 |
| VPS13B | 1 | Cohen Syndrome | 216550 |
| LRP2 | 1 | Donnai-Barrow Syndrome | 222448 |
| ETHE1 | 1 | Encephalopathy, Ethylmalonic | 602473 |
| GLA | 1 | Fabry Disease | 301500 |
| TIMP3 | 1 | Fundus Dystrophy, Pseudoinflammatory, Of Sorsby | 136900 |
| MYOC | 1 | Glaucoma 1, Open Angle, A | 137750 |
| CYP1B1 | 1 | Glaucoma 3, Primary Infantile, A | 231300 |
| FTL | 1 | Hyperferritinemia-Cataract Syndrome | 600886 |
| NDUFS7 | 1 | Leigh Syndrome | 256000 |
| ASAH1 | 1 | Macular Cherry-Red Spots | 228000 |
| APOE | 1 | Macular Degeneration, Age-Related, 1 | 603075 |
| C2 | 1 | Macular Degeneration, Age-Related, 1 | 603075 |
| C3 | 1 | Macular Degeneration, Age-Related, 9 | 611378 |
| SNX3 | 1 | Microcephaly, Microphthalmia, Ectrodactylyand Prognathism | 601349 |
| PAFAH1B1 | 1 | Miller-Dieker Lissencephaly Syndrome | 247200 |
| GLB1 | 1 | Mucopolysaccharidosis Type Ivb | 253010 |
| TRIM37 | 1 | Mulibrey Nanism | 253250 |
| POMGNT1 | 1 | Muscle-Eye-Brain Disease | 253280 |
| ACOX1 | 1 | PEROXISOMAL ACYL-Coa OXIDASE DEFICIENCY | 264470 |
| PRPF8 | 1 | Retinitis Pigmentosa 13 | 600059 |
| PRPF3 | 1 | Retinitis Pigmentosa 18 | 601414 |
| ROM1 | 1 | Retinitis Pigmentosa 7 | 608133 |
| GNPAT | 1 | Rhizomelic Chondrodysplasia Punctata, Type 2 | 222765 |
| NPHP3 | 1 | Senior-Loken Syndrome 3 | 606995 |
| NPHP4 | 1 | Senior-Loken Syndrome 4 | 606996 |
| GM2A | 1 | Tay-Sachs Disease, ab variant | 272750 |
| USH1C | 1 | Usher Syndrome, Type Ic | 276904 |
| DFNB31 | 1 | Usher Syndrome, Type 2d | 607084 |
| POMT2 | 1 | Walker-Warburg Syndrome | 236670 |
| PEX1 | 1 | Zellweger Syndrome | 214100 |
The gene name is shown in the first column. The second column indicates the relative abundance (# ESTs identified/2000 sequencing runs). The disease associated with mutations in each gene are shown in the the third column. The OMIM (Online Mendelian Inheritance in Man) entry number is shown in the fourth column.