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Table 5 Eye Disease Genes with ESTs in ON.

From: Expressed sequence tag analysis of adult human optic nerve for NEIBank: Identification of cell type and tissue markers

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
  1. 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.