| Symbol |
Name |
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ASPA
|
aspartoacylase
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
CAPN5
|
calpain 5
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRX
|
cone-rod homeobox
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
FBN1
|
fibrillin 1
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FZD4
|
frizzled class receptor 4
|
|
GALC
|
galactosylceramidase
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GM2A
|
GM2 ganglioside activator
|
|
GNAS
|
GNAS complex locus
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OAT
|
ornithine aminotransferase
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLG
|
plasminogen
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PROS1
|
protein S (alpha)
|
|
RD3
|
retinal degeneration 3
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
