Eye diseases - LOVD
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ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4)
ABCB5 (ATP-binding cassette, sub-family B (MDR/TAP), member 5)
ABCC6 (ATP-binding cassette, sub-family C (CFTR/MRP), member 6)
ABHD12 (abhydrolase domain containing 12)
ACBD5 (acyl-CoA binding domain containing 5)
ADAM9 (ADAM metallopeptidase domain 9)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10)
ADAMTSL4 (ADAM metallopeptidase with thrombospondin type 1 motif, like 4)
AHI1 (Abelson helper integration site 1)
AIPL1 (Aryl hydrocarbon receptor interacting protein-like 1)
ALMS1 (Alstrom syndrome 1)
ARL6 (ADP-ribosylation factor-like 6)
BBS1 (Bardet-Biedl syndrome 1)
BBS10 (Bardet-Biedl syndrome 10)
BBS12 (Bardet-Biedl syndrome 12)
BBS2 (Bardet-Biedl syndrome 2)
BBS4 (Bardet-Biedl syndrome 4)
BBS5 (Bardet-Biedl syndrome 5)
BBS7 (Bardet-Biedl syndrome 7)
BBS9 (Bardet-Biedl syndrome 9)
BEST1 (Bestrophin 1)
BFSP1 (Beaded filament structural protein 1)
BFSP2 (Beaded filament structural protein 2)
C1QTNF5 (C1q and tumor necrosis factor related protein 5)
C21orf2 (chromosome 21 open reading frame 2)
C2orf71 (Chromosome 2 open reading frame 71)
C8orf37 (Chromosome 8 open reading frame 37)
CA4 (Carbonic anhydrase IV)
CABP4 (calcium binding protein 4)
CACNA1F (Calcium channel, voltage-dependent, L type, alpha 1F subunit)
CACNA2D4 (calcium channel, voltage-dependent, alpha 2/delta subunit 4)
CAPN5 (calpain 5)
CC2D2A (Coiled-coil and C2 domain containing 2A)
CDH3 (cadherin 3, type 1, P-cadherin (placental))
CDHR1 (Cadherin-related family member 1)
CEP164 (centrosomal protein 164kDa)
CEP290 (Centrosomal protein 290kDa)
CERKL (ceramide kinase-like)
CFH (Complement factor H)
CHMP4B (Chromatin modifying protein 4B)
CNGA1 (cyclic nucleotide gated channel alpha 1)
CNGA3 (cyclic nucleotide gated channel alpha 3)
CNGB1 (cyclic nucleotide gated channel beta 1)
CNGB3 (cyclic nucleotide gated channel beta 3)
CNNM4 (cyclin M4)
COL9A1 (collagen, type IX, alpha 1)
CRB1 (Crumbs homolog 1 (Drosophila))
CRX (cone-rod homeobox)
CRYAA (Crystallin, alpha-A)
CRYAB (Crystallin, alpha-B)
CRYBA1 (Crystallin, beta-A1)
CRYBA2 (crystallin, beta A2)
CRYBA4 (Crystallin, beta-A4)
CRYBB1 (Crystallin, beta-B1)
CRYBB2 (Crystallin, beta-B2)
CRYBB2P1 (Crystallin, beta B2 pseudogene 1)
CRYBB3 (Crystallin, beta-B3)
CRYGA (Crystallin, gamma A)
CRYGB (Crystallin, gamma B)
CRYGC (Crystallin, gamma-C)
CRYGD (Crystallin, gamma-D)
CRYGEP (Crystallin, gamma E, pseudogene)
CRYGS (Crystallin, gamma-S)
CRYM (Crystallin, mu)
CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2)
DFNB31 (deafness, autosomal recessive 31)
DHDDS (dehydrodolichyl diphosphate synthase)
DTHD1 (Death domain containing 1)
EFEMP1 (EGF containing fibulin-like extracellular matrix protein 1)
ELOVL4 (ELOVL fatty acid elongase 4)
EMC1 (ER membrane protein complex subunit 1)
EYS (Eyes shut homolog (Drosophila))
FAM161A (family with sequence similarity 161, member A)
FLVCR1 (feline leukemia virus subgroup C cellular receptor 1)
FSCN2 (fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus))
FZD4 (frizzled family receptor 4)
GCNT2 (glucosaminyl (N-acetyl) transferase 2)
GJA3 (Gap junction protein, alpha 3)
GJA8 (Gap junction protein, alpha 8)
GLIS2 (GLIS family zinc finger 2)
GNAT1 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1)
GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2)
GNPTG (N-acetylglucosamine-1-phosphate transferase, gamma subunit)
GPR125 (G protein-coupled receptor 125)
GPR143 (G protein-coupled receptor 143)
GPR179 (G protein-coupled receptor 179)
GRK1 (G protein-coupled receptor kinase 1)
GRM6 (glutamate receptor, metabotropic 6)
GUCA1A (Guanylate cyclase activator 1A (retina))
GUCA1B (Guanylate cyclase activator 1B (retina))
GUCY2D (Guanylate cyclase 2D, membrane (retina-specific))
HARS (histidyl-tRNA synthetase)
HMCN1 (hemicentin 1)
HPS1 (Hermansky-Pudlak syndrome 1)
HSF4 (Heat shock transcription factor 4)
IDH3B (isocitrate dehydrogenase 3 (NAD+) beta)
IMPDH1 (IMP (inosine 5'-monophosphate) dehydrogenase 1)
IMPG2 (Interphotoreceptor matrix proteoglycan 2)
INPP5E (inositol polyphosphate-5-phosphatase, 72 kDa)
INVS (Inversin)
IQCB1 (IQ motif containing B1)
KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13)
KCNV2 (potassium channel, subfamily V, member 2)
KIAA1549 (KIAA1549)
KLHL7 (kelch-like 7 (Drosophila))
LCA5 (Leber congenital amaurosis 5)
LIM2 (Lens intrinsic membrane protein 2)
LRAT (lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase))
LRIT3 (leucine-rich repeat, immunoglobulin-like and transmembrane domains 3)
LRP5 (low density lipoprotein receptor-related protein 5)
LZTFL1 (leucine zipper transcription factor-like 1)
MAF (Musculoaponeurotic fibrosarcoma oncogene homolog (avian))
MAK (male germ cell-associated kinase)
MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor))
MERTK (c-mer proto-oncogene tyrosine kinase)
MFRP (membrane frizzled-related protein)
MKKS (McKusick-Kaufman syndrome)
MYOC (Myocilin)
NDP (Norrie disease (pseudoglioma))
NEK8 (NIMA (never in mitosis gene a)- related kinase 8)
NPHP1 (nephronophthisis 1 (juvenile))
NPHP3 (Nephronophthisis 3 (adolescent))
NPHP4 (Nephronophthisis 4)
NR2E3 (nuclear receptor subfamily 2, group E, member 3)
NRL (Neural retina leucine zipper)
NYX (Nyctalopin)
OAT (Ornithine aminotransferase)
OCA2 (oculocutaneous albinism II)
OPA1 (optic atrophy 1 (autosomal dominant))
OPA3 (optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia))
OPN1LW (opsin 1 (cone pigments), long-wave-sensitive)
OPN1MW (opsin 1 (cone pigments), medium-wave-sensitive)
OPN1SW (opsin 1 (cone pigments), short-wave-sensitive)
OTX2 (orthodenticle homeobox 2)
PANK2 (pantothenate kinase 2)
PDC (phosducin)
PDE6A (phosphodiesterase 6A, cGMP-specific, rod, alpha)
PDE6B (Phosphodiesterase 6B, cGMP-specific, rod, beta)
PDE6C (phosphodiesterase 6C, cGMP-specific, cone, alpha prime)
PDE6G (phosphodiesterase 6G, cGMP-specific, rod, gamma)
PDE6H (phosphodiesterase 6H, cGMP-specific, cone, gamma)
PEX1 (peroxisomal biogenesis factor 1)
PEX2 (peroxisomal biogenesis factor 2)
PEX7 (peroxisomal biogenesis factor 7)
PHYH (phytanoyl-CoA 2-hydroxylase)
PITPNM3 (PITPNM family member 3)
PITX3 (Paired-like homeodomain 3)
PLA2G5 (phospholipase A2, group V)
PRCD (progressive rod-cone degeneration)
PRKCG (protein kinase C, gamma)
PROM1 (Prominin 1)
PRPF3 (PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae))
PRPF31 (PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae))
PRPF6 (PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae))
PRPF8 (PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae))
PRPH2 (Peripherin 2 (retinal degeneration, slow))
RAX2 (retina and anterior neural fold homeobox 2)
RBP3 (retinol binding protein 3, interstitial)
RBP4 (retinol binding protein 4, plasma)
RD3 (retinal degeneration 3)
RDH12 (Retinol dehydrogenase 12 (all-trans/9-cis/11-cis))
RDH5 (retinol dehydrogenase 5 (11-cis/9-cis))
RGR (Retinal G protein coupled receptor)
RGS9 (regulator of G-protein signaling 9)
RGS9BP (regulator of G protein signaling 9 binding protein)
RHO (Rhodopsin)
RIMS1 (Regulating synaptic membrane exocytosis 1)
RLBP1 (Retinaldehyde binding protein 1)
ROM1 (retinal outer segment membrane protein 1)
RP1 (Retinitis pigmentosa 1 (autosomal dominant))
RP1L1 (retinitis pigmentosa 1-like 1)
RP2 (Retinitis pigmentosa 2 (X-linked recessive))
RP9 (Retinitis pigmentosa 9 (autosomal dominant))
RPE65 (Retinal pigment epithelium-specific protein 65kDa)
RPGR (Retinitis pigmentosa GTPase regulator)
RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1)
RPGRIP1L (RPGRIP1-like)
RS1 (Retinoschisis 1 (X-linked, juveline))
SAG (S-antigen; retina and pineal gland (arrestin))
SDCCAG8 (serologically defined colon cancer antigen 8)
SEMA4A (Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic ...)))
SLC24A1 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 1)
SLC45A2 (solute carrier family 45, member 2)
SNRNP200 (Small nuclear ribonucleoprotein 200kDa (U5))
SPATA7 (Spermatogenesis associated 7)
TEAD1 (TEA domain family member 1 (SV40 transcriptional enhancer factor))
TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast))
TIMP3 (TIMP metallopeptidase inhibitor 3)
TMEM114 (Transmembrane protein 114)
TMEM126A (Transmembrane protein 126A)
TMEM237 (transmembrane protein 237)
TOPORS (topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase)
TRPM1 (Transient receptor potential cation channel, subfamily M, member 1)
TSPAN12 (tetraspanin 12)
TTC8 (tetratricopeptide repeat domain 8)
TTPA (tocopherol (alpha) transfer protein)
TULP1 (tubby like protein 1)
TYR (tyrosinase (oculocutaneous albinism IA))
UNC119 (unc-119 homolog (C. elegans))
VCAN (versican)
VIM (Vimentin)
VSX1 (Visual system homeobox 1)
WDPCP (WD repeat containing planar cell polarity effector)
WDR19 (WD repeat domain 19)
WFS1 (Wolfram syndrome 1 (wolframin))
ZNF408 (zinc finger protein 408)
ZNF423 (zinc finger protein 423)
ZNF513 (zinc finger protein 513)
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Leiden University Medical Center