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 |