LOVD - Current system status

2014/07/22 17:04:45 CEST - Tuesday, July 22nd 2014

Gene symbol Gene name Total variants Unique variants Patients
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 18 13 9
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0 0 0
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6 348 348 1
ABHD12 abhydrolase domain containing 12 38 4 19
ACBD5 acyl-CoA binding domain containing 5 2 1 1
ADAM9 ADAM metallopeptidase domain 9 0 0 0
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 0 0 0
ADAMTSL4 ADAM metallopeptidase with thrombospondin type 1 motif, like 4 0 0 0
AHI1 Abelson helper integration site 1 4 2 2
AIPL1 Aryl hydrocarbon receptor interacting protein-like 1 433 79 223
ALMS1 Alstrom syndrome 1 0 0 0
ARL6 ADP-ribosylation factor-like 6 2 1 1
BBS1 Bardet-Biedl syndrome 1 2 1 1
BBS10 Bardet-Biedl syndrome 10 0 0 0
BBS12 Bardet-Biedl syndrome 12 0 0 0
BBS2 Bardet-Biedl syndrome 2 0 0 0
BBS4 Bardet-Biedl syndrome 4 0 0 0
BBS5 Bardet-Biedl syndrome 5 0 0 0
BBS7 Bardet-Biedl syndrome 7 0 0 0
BBS9 Bardet-Biedl syndrome 9 2 1 1
BEST1 Bestrophin 1 2 2 2
BFSP1 Beaded filament structural protein 1 2 2 2
BFSP2 Beaded filament structural protein 2 0 0 0
C1QTNF5 C1q and tumor necrosis factor related protein 5 0 0 0
C21orf2 chromosome 21 open reading frame 2 2 1 1
C2orf71 Chromosome 2 open reading frame 71 69 13 42
C8orf37 Chromosome 8 open reading frame 37 8 4 4
CA4 Carbonic anhydrase IV 5 2 5
CABP4 calcium binding protein 4 0 0 0
CACNA1F Calcium channel, voltage-dependent, L type, alpha 1F subunit 128 12 127
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 2 2 1
CAPN5 calpain 5 0 0 0
CC2D2A Coiled-coil and C2 domain containing 2A 4 2 2
CDH3 cadherin 3, type 1, P-cadherin (placental) 0 0 0
CDHR1 Cadherin-related family member 1 2 1 1
CEP164 centrosomal protein 164kDa 0 0 0
CEP290 Centrosomal protein 290kDa 464 139 401
CERKL ceramide kinase-like 2 1 1
CFH Complement factor H 2 2 1
CHMP4B Chromatin modifying protein 4B 0 0 0
CNGA1 cyclic nucleotide gated channel alpha 1 0 0 0
CNGA3 cyclic nucleotide gated channel alpha 3 2 1 1
CNGB1 cyclic nucleotide gated channel beta 1 0 0 0
CNGB3 cyclic nucleotide gated channel beta 3 0 0 0
CNNM4 cyclin M4 2 1 1
COL9A1 collagen, type IX, alpha 1 0 0 0
CRB1 Crumbs homolog 1 (Drosophila) 88 37 51
CRX cone-rod homeobox 2 2 2
CRYAA Crystallin, alpha-A 572 22 424
CRYAB Crystallin, alpha-B 0 0 0
CRYBA1 Crystallin, beta-A1 195 11 153
CRYBA2 crystallin, beta A2 3 3 1
CRYBA4 Crystallin, beta-A4 99 11 96
CRYBB1 Crystallin, beta-B1 98 7 68
CRYBB2 Crystallin, beta-B2 313 25 185
CRYBB2P1 Crystallin, beta B2 pseudogene 1 1 1 1
CRYBB3 Crystallin, beta-B3 22 5 11
CRYGA Crystallin, gamma A 21 4 17
CRYGB Crystallin, gamma B 52 6 19
CRYGC Crystallin, gamma-C 101 10 100
CRYGD Crystallin, gamma-D 295 21 263
CRYGEP Crystallin, gamma E, pseudogene 0 0 0
CRYGS Crystallin, gamma-S 25 3 25
CRYM Crystallin, mu 280 6 277
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 0 0 0
DFNB31 deafness, autosomal recessive 31 0 0 0
DHDDS dehydrodolichyl diphosphate synthase 0 0 0
DTHD1 Death domain containing 1 2 1 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 0 0 0
ELOVL4 ELOVL fatty acid elongase 4 6 1 3
EMC1 ER membrane protein complex subunit 1 2 1 1
EYS Eyes shut homolog (Drosophila) 9 6 5
FAM161A family with sequence similarity 161, member A 23 15 19
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 0 0 0
FSCN2 fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) 0 0 0
FZD4 frizzled family receptor 4 0 0 0
GCNT2 glucosaminyl (N-acetyl) transferase 2 1 1 1
GJA3 Gap junction protein, alpha 3 1 1 1
GJA8 Gap junction protein, alpha 8 10 9 10
GLIS2 GLIS family zinc finger 2 0 0 0
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 0 0 0
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 0 0 0
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit 0 0 0
GPR125 G protein-coupled receptor 125 2 1 1
GPR143 G protein-coupled receptor 143 0 0 0
GPR179 G protein-coupled receptor 179 6 5 5
GRK1 G protein-coupled receptor kinase 1 0 0 0
GRM6 Glutamate receptor, metabotropic 6 2 1 1
GUCA1A Guanylate cyclase activator 1A (retina) 2 2 2
GUCA1B Guanylate cyclase activator 1B (retina) 9 3 8
GUCY2D Guanylate cyclase 2D, membrane (retina-specific) 22 8 18
HARS histidyl-tRNA synthetase 0 0 0
HPS1 Hermansky-Pudlak syndrome 1 0 0 0
HSF4 Heat shock transcription factor 4 5 5 5
IDH3B isocitrate dehydrogenase 3 (NAD+) beta 0 0 0
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1 1 1
IMPG2 Interphotoreceptor matrix proteoglycan 2 6 4 3
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 0 0 0
INVS Inversin 2 2 1
IQCB1 IQ motif containing B1 0 0 0
KCNJ13 potassium inwardly-rectifying channel, subfamily J, member 13 0 0 0
KCNV2 potassium channel, subfamily V, member 2 0 0 0
KIAA1549 KIAA1549 2 1 1
KLHL7 kelch-like 7 (Drosophila) 0 0 0
LCA5 Leber congenital amaurosis 5 492 32 251
LIM2 Lens intrinsic membrane protein 2 0 0 0
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 0 0 0
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 0 0 0
LRP5 low density lipoprotein receptor-related protein 5 0 0 0
LZTFL1 leucine zipper transcription factor-like 1 0 0 0
MAF Musculoaponeurotic fibrosarcoma oncogene homolog (avian) 0 0 0
MAK male germ cell-associated kinase 0 0 0
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0 0 0
MERTK c-mer proto-oncogene tyrosine kinase 6 1 3
MFRP membrane frizzled-related protein 0 0 0
MKKS McKusick-Kaufman syndrome 6 2 3
MYOC Myocilin 119 8 114
NDP Norrie disease (pseudoglioma) 0 0 0
NEK8 NIMA (never in mitosis gene a)- related kinase 8 0 0 0
NPHP1 nephronophthisis 1 (juvenile) 0 0 0
NPHP3 Nephronophthisis 3 (adolescent) 2 2 1
NPHP4 Nephronophthisis 4 2 2 1
NR2E3 nuclear receptor subfamily 2, group E, member 3 541 87 384
NRL Neural retina leucine zipper 2 2 1
NYX Nyctalopin 1 1 1
OAT Ornithine aminotransferase 158 67 88
OCA2 oculocutaneous albinism II 0 0 0
OPA1 optic atrophy 1 (autosomal dominant) 0 0 0
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0 0 0
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 0 0 0
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 0 0 0
OPN1SW opsin 1 (cone pigments), short-wave-sensitive 0 0 0
OTX2 orthodenticle homeobox 2 0 0 0
PANK2 pantothenate kinase 2 0 0 0
PDC phosducin 0 0 0
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0 0 0
PDE6B Phosphodiesterase 6B, cGMP-specific, rod, beta 28 17 17
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 0 0 0
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 0 0 0
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 0 0 0
PEX1 peroxisomal biogenesis factor 1 0 0 0
PEX2 peroxisomal biogenesis factor 2 0 0 0
PEX7 peroxisomal biogenesis factor 7 0 0 0
PHYH phytanoyl-CoA 2-hydroxylase 0 0 0
PITPNM3 PITPNM family member 3 2 1 2
PITX3 Paired-like homeodomain 3 0 0 0
PLA2G5 phospholipase A2, group V 0 0 0
PRCD progressive rod-cone degeneration 0 0 0
PRKCG protein kinase C, gamma 0 0 0
PROM1 Prominin 1 76 6 63
PRPF3 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) 0 0 0
PRPF31 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) 2 2 2
PRPF6 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) 0 0 0
PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) 0 0 0
PRPH2 Peripherin 2 (retinal degeneration, slow) 4 3 3
RAX2 retina and anterior neural fold homeobox 2 0 0 0
RBP3 retinol binding protein 3, interstitial 2 1 1
RBP4 retinol binding protein 4, plasma 0 0 0
RD3 retinal degeneration 3 0 0 0
RDH12 Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 6 4 3
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 220 42 110
RGR Retinal G protein coupled receptor 2 1 2
RGS9 regulator of G-protein signaling 9 0 0 0
RGS9BP regulator of G protein signaling 9 binding protein 0 0 0
RHO Rhodopsin 3 3 3
RIMS1 Regulating synaptic membrane exocytosis 1 2 2 2
RLBP1 Retinaldehyde binding protein 1 2 1 1
ROM1 retinal outer segment membrane protein 1 0 0 0
RP1 Retinitis pigmentosa 1 (autosomal dominant) 921 96 751
RP1L1 retinitis pigmentosa 1-like 1 0 0 0
RP2 Retinitis pigmentosa 2 (X-linked recessive) 13 3 13
RP9 Retinitis pigmentosa 9 (autosomal dominant) 1 1 1
RPE65 Retinal pigment epithelium-specific protein 65kDa 8 6 4
RPGR Retinitis pigmentosa GTPase regulator 61 10 59
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 29 8 15
RPGRIP1L RPGRIP1-like 4 3 2
RS1 Retinoschisis 1 (X-linked, juveline) 995 196 977
SAG S-antigen; retina and pineal gland (arrestin) 0 0 0
SDCCAG8 serologically defined colon cancer antigen 8 0 0 0
SEMA4A Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 70 9 65
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 0 0 0
SLC45A2 solute carrier family 45, member 2 0 0 0
SNRNP200 Small nuclear ribonucleoprotein 200kDa (U5) 9 7 8
SPATA7 Spermatogenesis associated 7 2 2 1
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor) 0 0 0
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0 0 0
TIMP3 TIMP metallopeptidase inhibitor 3 0 0 0
TMEM114 Transmembrane protein 114 0 0 0
TMEM126A Transmembrane protein 126A 0 0 0
TMEM237 transmembrane protein 237 0 0 0
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 9 2 9
TRPM1 Transient receptor potential cation channel, subfamily M, member 1 10 6 5
TSPAN12 tetraspanin 12 0 0 0
TTC8 tetratricopeptide repeat domain 8 95 28 68
TTPA tocopherol (alpha) transfer protein 0 0 0
TULP1 tubby like protein 1 261 43 133
TYR tyrosinase (oculocutaneous albinism IA) 0 0 0
UNC119 unc-119 homolog (C. elegans) 0 0 0
VCAN versican 0 0 0
VIM Vimentin 2 1 2
VSX1 Visual system homeobox 1 0 0 0
WDPCP WD repeat containing planar cell polarity effector 0 0 0
WFS1 Wolfram syndrome 1 (wolframin) 0 0 0
ZNF408 zinc finger protein 408 0 0 0
ZNF423 zinc finger protein 423 0 0 0
ZNF513 zinc finger protein 513 0 0 0
  Total of 206 gene entries 7993 1585 5649