GENÓMICA para expertos en OFTALMOLOGÍA
Lista de genes qGenVision
Gene | Associated Phenotype description | OMIM disease ID |
---|---|---|
ABCA4 | Cone-rod dystrophy 3 | 604116 |
ABCA4 | Fundus flavimaculatus, | 248200 |
ABCA4 | Retinal dystrophy, early-onset severe, | 248200 |
ABCA4 | Retinitis pigmentosa 19 | 601718 |
ABCA4 | Stargardt disease 1 | 248200 |
ABCA4 | {Macular degeneration, age-related, 2}, | 153800 |
ABCC6 | Arterial calcification, generalized, of infancy, 2 | 614473 |
ABCC6 | Pseudoxanthoma elasticum, | 264800 |
ABCC6 | Pseudoxanthoma elasticum, forme fruste, | 177850 |
ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
ACBD5 | No OMIM phenotype | 612674 |
ACBD5 | Thrombocytopaenia (Punzo -2010 J Thromb Haemost 8,2085) | 612674 |
ACBD5 | ?Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236) | 612674 |
ADAM9 | Cone-rod dystrophy 9 | 612775 |
ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus, | 615458 |
ADIPOR1 | No OMIM phenotype | 615458 |
ADIPOR1 | syndromic retinitis pigmentosa (Xy -2016 Hum Mutat 37(3):246-249 | 615458 |
AGBL1 | Corneal dystrophy, Fuchs endothelial, 8 | 615523 |
AGBL5 | Retinitis pigmentosa 75, | 617023 |
AGK | Cataract 38 autosomal recessive, | 614691 |
AGK | Sengers syndrome, | 212350 |
AHI1 | Joubert syndrome-3, | 608629 |
AIPL1 | Cone-rod dystrophy, | 604393 |
AIPL1 | Leber congenital amaurosis 4 | 604393 |
AIPL1 | Retinitis pigmentosa, juvenile, | 604393 |
ALMS1 | Alstrom syndrome, | 203800 |
AP3B1 | Hermansky-Pudlak syndrome 2 | 608233 |
APOPT1 | Mitochondrial complex IV deficiency, | 220110 |
ARL13B | Joubert syndrome 8 | 612291 |
ARL2BP | Retinitis pigmentosa with or without situs inversus, | 615434 |
ARL3 | No OMIM phenotype | 615434 |
ARL3 | ?Retinitis pigmentosa (Strom -2016 PLoS One 11) | 615434 |
ARL6 | Bardet-Biedl syndrome 3 | 600151 |
ARL6 | ?Retinitis pigmentosa 55 | 613575 |
ARL6 | {Bardet-Biedl syndrome 1 modifier of}, | 209900 |
ASPH | Traboulsi syndrome, | 601552 |
ATF6 | Achromatopsia 7 | 616517 |
B3GALTL | Peters-plus syndrome, | 261540 |
BBIP1 | ?Bardet-Biedl syndrome 18 | 615995 |
BBS1 | Bardet-Biedl syndrome 1 | 209900 |
BBS10 | Bardet-Biedl syndrome 10 | 615987 |
BBS12 | Bardet-Biedl syndrome 12 | 615989 |
BBS2 | Bardet-Biedl syndrome 2 | 615981 |
BBS2 | Retinitis pigmentosa 74 | 616562 |
BBS4 | Bardet-Biedl syndrome 4 | 615982 |
BBS5 | Bardet-Biedl syndrome 5 | 615983 |
BBS7 | Bardet-Biedl syndrome 7 | 615984 |
BBS9 | Bardet-Biedl syndrome 9 | 615986 |
BCOR | Microphthalmia, syndromic 2 | 300166 |
BEST1 | Bestrophinopathy, autosomal recessive, | 611809 |
BEST1 | Macular dystrophy, vitelliform, 2 | 153700 |
BEST1 | Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, | 193220 |
BEST1 | Retinitis pigmentosa, concentric, | 613194 |
BEST1 | Retinitis pigmentosa-50, | 613194 |
BEST1 | Vitreoretinochoroidopathy, | 193220 |
BFSP1 | Cataract 33 | 611391 |
BFSP2 | Cataract 12 multiple types, | 611597 |
BLOC1S3 | Hermansky-Pudlak syndrome 8 | 614077 |
BLOC1S6 | Hermansky-pudlak syndrome 9 | 614171 |
BMP4 | Microphthalmia, syndromic 6 | 607932 |
BMP4 | Orofacial cleft 11 | 600625 |
C10orf11 | Albinism, oculocutaneous, type VII, | 615179 |
C12orf65 | Combined oxidative phosphorylation deficiency 7 | 613559 |
C12orf65 | Spastic paraplegia 55 autosomal recessive, | 615035 |
C19orf12 | Neurodegeneration with brain iron accumulation 4 | 614298 |
C19orf12 | ?Spastic paraplegia 43 autosomal recessive, | 615043 |
C1QTNF5 | Retinal degeneration, late-onset, autosomal dominant, | 605670 |
C21orf2 | No OMIM disease | 605670 |
C21orf2 | Retinal dystrophy,early-onset with macular staphyloma (Khan -2015 Br J Ophtalmol 99,1725) | 605670 |
C21orf2 | Cone-rod dystrophy (Abu-Safieh -2013 Genome Res 23,236) | 605670 |
C21orf2 | Jeune syndrome (Wheway -2015 Nat Cell Biol 17,1074) | 605670 |
C2orf71 | Retinitis pigmentosa 54 | 613428 |
C5orf42 | Joubert syndrome 17 | 614615 |
C5orf42 | Orofaciodigital syndrome VI, | 277170 |
C8orf37 | Cone-rod dystrophy 16 | 614500 |
C8orf37 | Retinitis pigmentosa 64 | 614500 |
CA4 | Retinitis pigmentosa 17 | 600852 |
CABP4 | Cone-rod synaptic disorder, congenital nonprogressive, | 610427 |
CACNA1F | Aland Island eye disease, | 300600 |
CACNA1F | Cone-rod dystrophy, X-linked, 3 | 300476 |
CACNA1F | Night blindness, congenital stationary (incomplete), 2A, X-linked, | 300071 |
CACNA2D4 | Retinal cone dystrophy 4 | 610478 |
CAPN5 | Vitreoretinopathy, neovascular inflammatory, | 193235 |
CC2D2A | COACH syndrome, | 216360 |
CC2D2A | Joubert syndrome 9 | 612285 |
CC2D2A | Meckel syndrome 6 | 612284 |
CCDC41 | Nephronophthisis 18 | 615862 |
CDH23 | Deafness, autosomal recessive 12 | 601386 |
CDH23 | Usher syndrome, type 1D, | 601067 |
CDH23 | Usher syndrome, type 1D/F digenic, | 601067 |
CDH3 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, | 225280 |
CDH3 | Hypotrichosis, congenital, with juvenile macular dystrophy, | 601553 |
CDHR1 | Cone-rod dystrophy 15 | 613660 |
CDHR1 | Retinitis pigmentosa 65 | 613660 |
CEP164 | Nephronophthisis 15 | 614845 |
CEP250 | No OMIM phenotype | 614845 |
CEP250 | Usher syndrome,atypical (Khateb -2014 J Med Genet 51,460) | 614845 |
CEP250 | ?Miscarriage, recurrent (Filges -2014 Mol Hum Reprod epub,epub) | 614845 |
CEP290 | Joubert syndrome 5 | 610188 |
CEP290 | Leber congenital amaurosis 10 | 611755 |
CEP290 | Meckel syndrome 4 | 611134 |
CEP290 | Senior-Loken syndrome 6 | 610189 |
CEP290 | ?Bardet-Biedl syndrome 14 | 615991 |
CEP41 | Joubert syndrome 15 | 614464 |
CEP78 | No OMIM phenotype | 614464 |
CEP78 | Usher syndrome (Fu et al, -2016 J Med Genet) | 614464 |
CERKL | Retinitis pigmentosa 26 | 608380 |
CFH | Basal laminar drusen, | 126700 |
CFH | Complement factor H deficiency, | 609814 |
CFH | {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, | 235400 |
CFH | {Macular degeneration, age-related, 4}, | 610698 |
CHM | Choroideremia, | 303100 |
CHMP4B | Cataract 31 multiple types, | 605387 |
CHST6 | Macular corneal dystrophy, | 217800 |
CIB2 | Deafness, autosomal recessive 48 | 609439 |
CIB2 | Usher syndrome, type IJ, | 614869 |
CLN3 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
CLN5 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
CLN6 | Ceroid lipofuscinosis, neuronal, 6 | 601780 |
CLN6 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, | 204300 |
CLN8 | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
CLN8 | Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant, | 610003 |
CLRN1 | Retinitis pigmentosa 61 | 614180 |
CLRN1 | Usher syndrome, type 3A, | 276902 |
CLUAP1 | No OMIM phenotype | 276902 |
CLUAP1 | Leber congenital amaurosis (Soens et al, -2016 Genet, Med,) | 276902 |
CNGA1 | Retinitis pigmentosa 49 | 613756 |
CNGA3 | Achromatopsia-2, | 216900 |
CNGB1 | Retinitis pigmentosa 45 | 613767 |
CNGB3 | Achromatopsia-3, | 262300 |
CNGB3 | Macular degeneration, juvenile, | 248200 |
CNNM4 | Jalili syndrome, | 217080 |
COL11A1 | Fibrochondrogenesis 1 | 228520 |
COL11A1 | Marshall syndrome, | 154780 |
COL11A1 | Stickler syndrome, type II, | 604841 |
COL11A1 | {Lumbar disc herniation, susceptibility to}, | 603932 |
COL11A2 | Deafness, autosomal dominant 13 | 601868 |
COL11A2 | Deafness, autosomal recessive 53 | 609706 |
COL11A2 | Fibrochondrogenesis 2 | 614524 |
COL11A2 | Otospondylomegaepiphyseal dysplasia, | 215150 |
COL11A2 | Stickler syndrome, type III, | 184840 |
COL11A2 | Weissenbacher-Zweymuller syndrome, | 277610 |
COL18A1 | Knobloch syndrome, type 1 | 267750 |
COL2A1 | Achondrogenesis, type II or hypochondrogenesis, | 200610 |
COL2A1 | Avascular necrosis of the femoral head, | 608805 |
COL2A1 | Czech dysplasia, | 609162 |
COL2A1 | Epiphyseal dysplasia, multiple, with myopia and deafness, | 132450 |
COL2A1 | Kniest dysplasia, | 156550 |
COL2A1 | Legg-Calve-Perthes disease, | 150600 |
COL2A1 | Osteoarthritis with mild chondrodysplasia, | 604864 |
COL2A1 | Otospondylomegaepiphyseal dysplasia, | 215150 |
COL2A1 | Platyspondylic skeletal dysplasia, Torrance type, | 151210 |
COL2A1 | SED congenita, | 183900 |
COL2A1 | SMED Strudwick type, | 184250 |
COL2A1 | Spondyloepiphyseal dysplasia, Stanescu type, | 616583 |
COL2A1 | Spondyloperipheral dysplasia, | 271700 |
COL2A1 | Stickler sydrome, type I, nonsyndromic ocular, | 609508 |
COL2A1 | Stickler syndrome, type I, | 108300 |
COL2A1 | Vitreoretinopathy with phalangeal epiphyseal dysplasia | 108300 |
COL8A2 | Corneal dystrophy, Fuchs endothelial, 1 | 136800 |
COL8A2 | Corneal dystrophy, posterior polymorphous 2 | 609140 |
COL9A1 | Stickler syndrome, type IV, | 614134 |
COL9A1 | /?Epiphyseal dysplasia, multiple, 6 | 614135 |
COL9A2 | Epiphyseal dysplasia, multiple, 2 | 600204 |
COL9A2 | ?Stickler syndrome, type V, | 614284 |
COL9A2 | {Intervertebral disc disease, susceptibility to}, | 603932 |
CRB1 | Leber congenital amaurosis 8 | 613835 |
CRB1 | Pigmented paravenous chorioretinal atrophy, | 172870 |
CRB1 | Retinitis pigmentosa-12, autosomal recessive, | 600105 |
CRX | Cone-rod retinal dystrophy-2, | 120970 |
CRX | Leber congenital amaurosis 7 | 613829 |
CRYAA | Cataract 9 multiple types, | 604219 |
CRYAB | Cardiomyopathy, dilated, 1II, | 615184 |
CRYAB | Cataract 16 multiple types, | 613763 |
CRYAB | Myopathy, myofibrillar, 2 | 608810 |
CRYAB | Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, | 613869 |
CRYBA1 | Cataract 10 multiple types, | 600881 |
CRYBA2 | ?Cataract 42 | 115900 |
CRYBA4 | Cataract 23 | 610425 |
CRYBB1 | Cataract 17 multiple types, | 611544 |
CRYBB2 | Cataract 3 multiple types, | 601547 |
CRYBB3 | Cataract 22 autosomal recessive, | 609741 |
CRYGB | Cataract 39 multiple types, autosomal dominant, | 615188 |
CRYGC | Cataract 2 multiple types, | 604307 |
CRYGD | Cataract 4 multiple types, | 115700 |
CRYGS | Cataract 20 multiple types, | 116100 |
CSPP1 | Joubert syndrome 21 | 615636 |
CTDP1 | Congenital cataracts, facial dysmorphism, and neuropathy, | 604168 |
CTNNA1 | Macular dystrophy,patterned, | 608970 |
CTNNA1 | Gastric cancer, diffuse (Majewski -2012 J Pathol epub) | 608970 |
CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
CYP1B1 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, | 231300 |
CYP1B1 | Peters anomaly, | 604229 |
CYP4V2 | Bietti crystalline corneoretinal dystrophy, | 210370 |
DCN | Corneal dystrophy, congenital stromal, | 610048 |
DFNB31 | Deafness, autosomal recessive 31 | 607084 |
DFNB31 | Usher syndrome, type 2D, | 611383 |
DHDDS | Retinitis pigmentosa 59 | 613861 |
DHX38 | No OMIM phenotype | 613861 |
DHX38 | Retinitis pigmentosa,early-onset with macular coloboma (Ajmal -2014 J Med Genet 51,444) | 613861 |
DKC1 | Dyskeratosis congenita, X-linked, | 305000 |
DRAM2 | Cone-rod dystrophy 21 | 616502 |
DTNBP1 | Hermansky-Pudlak syndrome 7 | 614076 |
EFEMP1 | Doyne honeycomb degeneration of retina, | 126600 |
ELOVL4 | Ichthyosis, spastic quadriplegia, and mental retardation, | 614457 |
ELOVL4 | Stargardt disease 3 | 600110 |
ELOVL4 | ?Spinocerebellar ataxia 34 | 133190 |
EPG5 | Vici syndrome, | 242840 |
EPHA2 | Cataract 6 multiple types, | 116600 |
EXOSC2 | No OMIM phenotype | 116600 |
EXOSC2 | Syndromic retinitis pigmentosa (Di Donato -2016 J Med Genet 53,419) | 116600 |
EYA1 | Anterior segment anomalies with or without cataract, | 113650 |
EYA1 | Branchiootic syndrome 1 | 602588 |
EYA1 | Branchiootorenal syndrome 1 with or without cataracts, | 113650 |
EYA1 | ?Otofaciocervical syndrome, | 166780 |
EYS | Retinitis pigmentosa 25 | 602772 |
FA2H | Spastic paraplegia 35 autosomal recessive, | 612319 |
FAM161A | Retinitis pigmentosa 28 | 606068 |
FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa, | 609033 |
FOXC1 | Axenfeld-Rieger syndrome, type 3 | 602482 |
FOXC1 | Iridogoniodysgenesis, type 1 | 601631 |
FOXC1 | Iris hypoplasia and glaucoma, | 601631 |
FOXC1 | Rieger or Axenfeld anomalies, | 602482 |
FOXE3 | Anterior segment mesenchymal dysgenesis, | 107250 |
FOXE3 | Aphakia, congenital primary, | 610256 |
FRMD7 | Nystagmus 1 congenital, X-linked, | 310700 |
FRMD7 | Nystagmus, infantile periodic alternating, X-linked, | 310700 |
FTL | Hyperferritinemia-cataract syndrome, | 600886 |
FTL | L-ferritin deficiency, dominant and recessive, | 615604 |
FTL | Neurodegeneration with brain iron accumulation 3 | 606159 |
FYCO1 | Cataract 18 autosomal recessive, | 610019 |
FZD4 | Exudative vitreoretinopathy 1 | 133780 |
FZD4 | Retinopathy of prematurity, | 133780 |
GALK1 | Galactokinase deficiency with cataracts, | 230200 |
GALT | Galactosemia, | 230400 |
GCNT2 | Adult i phenotype without cataract, | 110800 |
GCNT2 | Cataract 13 with adult i phenotype, | 116700 |
GCNT2 | [Blood group, Ii], | 110800 |
GDF3 | Klippel-Feil syndrome 3 autosomal dominant, | 613702 |
GDF3 | Microphthalmia with coloboma 6 | 613703 |
GDF3 | Microphthalmia, isolated 7 | 613704 |
GDF6 | Klippel-Feil syndrome 1 autosomal dominant, | 118100 |
GDF6 | Leber congenital amaurosis 17 | 615360 |
GDF6 | Microphthalmia with coloboma 6 digenic, | 613703 |
GDF6 | Microphthalmia, isolated 4 | 613094 |
GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613094 |
GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, | 613076 |
GJA1 | Atrioventricular septal defect 3 | 600309 |
GJA1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
GJA1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
GJA1 | Hypoplastic left heart syndrome 1 | 241550 |
GJA1 | Oculodentodigital dysplasia, | 164200 |
GJA1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
GJA1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
GJA1 | Syndactyly, type III, | 186100 |
GJA3 | Cataract 14 multiple types, | 601885 |
GJA8 | Cataract 1 multiple types, | 116200 |
GNAT1 | Night blindness, congenital stationary, autosomal dominant 3 | 610444 |
GNAT1 | ?Night blindness, congenital stationary, type 1G, | 616389 |
GNAT2 | Achromatopsia-4, | 613856 |
GNB3 | Night blindness, congenital stationary, type 1H, | 617024 |
GNB3 | {Hypertension, essential, susceptibility to}, | 145500 |
GNPTG | Mucolipidosis III gamma, | 252605 |
GPR143 | Nystagmus 6 congenital, X-linked, | 300814 |
GPR143 | Ocular albinism, type I, Nettleship-Falls type, | 300500 |
GPR179 | Night blindness, congenital stationary (complete), 1E, autosomal recessive, | 614565 |
GPR98 | Usher syndrome, type 2C, | 605472 |
GPR98 | Usher syndrome, type 2C, GPR98/PDZD7 digenic, | 605472 |
GPR98 | ?Febrile seizures, familial, 4 | 604352 |
GRK1 | Oguchi disease-2, | 613411 |
GRM6 | Night blindness, congenital stationary (complete), 1B, autosomal recessive, | 257270 |
GRN | Aphasia, primary progressive, | 607485 |
GRN | Ceroid lipofuscinosis, neuronal, 11 | 614706 |
GRN | Frontotemporal lobar degeneration with ubiquitin-positive inclusions, | 607485 |
GSN | Amyloidosis, Finnish type, | 105120 |
GUCA1A | Cone dystrophy-3, | 602093 |
GUCA1A | Cone-rod dystrophy 14 | 602093 |
GUCA1B | Retinitis pigmentosa 48 | 613827 |
GUCY2D | Cone-rod dystrophy 6 | 601777 |
GUCY2D | Leber congenital amaurosis 1 | 204000 |
HARS | Charcot-Marie-Tooth disease, axonal, type 2W, | 616625 |
HARS | Usher syndrome type 3B, | 614504 |
HCCS | Linear skin defects with multiple congenital anomalies 1 | 309801 |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), | 252930 |
HGSNAT | Retinitis pigmentosa 73 | 616544 |
HK1 | Hemolytic anemia due to hexokinase deficiency, | 235700 |
HK1 | Neuropathy, hereditary motor and sensory, Russe type, | 605285 |
HK1 | Retinitis pigmentosa (Wang -2014 Invest Ophthalmol Vis Sci 55,7159) | 605285 |
HMX1 | Oculoauricular syndrome, | 612109 |
HPS1 | Hermansky-Pudlak syndrome 1 | 203300 |
HPS4 | Hermansky-Pudlak syndrome 4 | 614073 |
HPS5 | Hermansky-Pudlak syndrome 5 | 614074 |
HPS6 | Hermansky-Pudlak syndrome 6 | 614075 |
HSF4 | Cataract 5 multiple types, | 116800 |
IDH3B | Retinitis pigmentosa 46 | 612572 |
IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly, | 266920 |
IFT172 | Retinitis pigmentosa 71 | 616394 |
IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly, | 615630 |
IFT27 | ?Bardet-Biedl syndrome 19 | 615996 |
IMPDH1 | Leber congenital amaurosis 11 | 613837 |
IMPDH1 | Retinitis pigmentosa 10 | 180105 |
IMPG1 | Macular dystrophy, vitelliform, 4 | 616151 |
IMPG2 | Macular dystrophy, vitelliform, 5 | 616152 |
IMPG2 | Retinitis pigmentosa 56 | 613581 |
INPP5E | Joubert syndrome 1 | 213300 |
INPP5E | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, | 610156 |
INVS | Nephronophthisis 2 infantile, | 602088 |
IQCB1 | Senior-Loken syndrome 5 | 609254 |
JAG1 | Alagille syndrome, | 118450 |
JAG1 | Tetralogy of Fallot, | 187500 |
JAG1 | ?Deafness, congenital heart defects, and posterior embryotoxon | 187500 |
JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, | 613730 |
KCNJ13 | Leber congenital amaurosis 16 | 614186 |
KCNJ13 | Snowflake vitreoretinal degeneration, | 193230 |
KCNV2 | Retinal cone dystrophy 3B, | 610356 |
KERA | Cornea plana congenita, recessive, | 217300 |
KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, | 152950 |
KIF7 | Acrocallosal syndrome, | 200990 |
KIF7 | Joubert syndrome 12 | 200990 |
KIF7 | ?Al-Gazali-Bakalinova syndrome, | 607131 |
KIF7 | ?Hydrolethalus syndrome 2 | 614120 |
KIZ | Retinitis pigmentosa 69 | 615780 |
KLHL7 | Cold induced sweating syndrome 3 | 617055 |
KLHL7 | Retinitis pigmentosa 42 | 612943 |
KRT12 | Meesmann corneal dystrophy, | 122100 |
KRT3 | Meesmann corneal dystrophy, | 122100 |
LAMA1 | Poretti-Boltshauser syndrome, | 615960 |
LCA5 | Leber congenital amaurosis 5 | 604537 |
LEMD2 | Cataract 46 juvenile-onset, | 212500 |
LEPREL1 | Myopia, high, with cataract and vitreoretinal degeneration, | 614292 |
LIM2 | Cataract 19 multiple types, | 615277 |
LRAT | Leber congenital amaurosis 14 | 613341 |
LRAT | Retinal dystrophy, early-onset severe, | 613341 |
LRAT | Retinitis pigmentosa, juvenile, | 613341 |
LRIT3 | Night blindness, congenital stationary (complete), 1F, autosomal recessive, | 615058 |
LRP5 | Exudative vitreoretinopathy 4 | 601813 |
LRP5 | Hyperostosis, endosteal, | 144750 |
LRP5 | Osteopetrosis, autosomal dominant 1 | 607634 |
LRP5 | Osteoporosis-pseudoglioma syndrome, | 259770 |
LRP5 | Osteosclerosis, | 144750 |
LRP5 | van Buchem disease, type 2 | 607636 |
LRP5 | [Bone mineral density variability 1], | 601884 |
LRP5 | {Osteoporosis}, | 166710 |
LSS | Cataract 44 | 616509 |
LYST | Chediak-Higashi syndrome, | 214500 |
LZTFL1 | Bardet-Biedl syndrome 17 | 615994 |
MAB21L2 | Microphthalmia, syndromic 14 | 615877 |
MAF | Ayme-Gripp syndrome, | 601088 |
MAF | Cataract 21 multiple types, | 610202 |
MAK | Retinitis pigmentosa 62 | 614181 |
MAPKAPK3 | No OMIM phenotype | 614181 |
MAPKAPK3 | Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916) | 614181 |
MERTK | Retinitis pigmentosa 38 | 613862 |
MFN2 | Charcot-Marie-Tooth disease, type 2A2, | 609260 |
MFN2 | Hereditary motor and sensory neuropathy VIA, | 601152 |
MFRP | Microphthalmia, isolated 5 | 611040 |
MFRP | Nanophthalmos 2 | 609549 |
MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | 610951 |
MFSD8 | Macular dystrophy with central cone involvement, | 616170 |
MIP | Cataract 15 multiple types, | 615274 |
MIP | MIR184 NC NC NC EDICT syndrome, | 614303 |
MITF | Tietz albinism-deafness syndrome, | 103500 |
MITF | Waardenburg syndrome, type 2A, | 193510 |
MITF | Waardenburg syndrome/ocular albinism, digenic, | 103470 |
MITF | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 614456 |
MKKS | Bardet-Biedl syndrome 6 | 605231 |
MKKS | McKusick-Kaufman syndrome, | 236700 |
MKS1 | Bardet-Biedl syndrome 13 | 615990 |
MKS1 | Meckel syndrome 1 | 249000 |
MVK | Hyper-IgD syndrome, | 260920 |
MVK | Mevalonic aciduria, | 610377 |
MVK | Porokeratosis 3 multiple types, | 175900 |
MYO7A | Deafness, autosomal dominant 11 | 601317 |
MYO7A | Deafness, autosomal recessive 2 | 600060 |
MYO7A | Usher syndrome, type 1B, | 276900 |
MYOC | Glaucoma 1A, primary open angle, | 137750 |
NAA10 | Ogden syndrome, | 300855 |
NAA10 | ?Microphthalmia, syndromic 1 | 309800 |
NBAS | Infantile liver failure syndrome 2 | 616483 |
NBAS | Short stature, optic nerve atrophy, and Pelger-Huet anomaly, | 614800 |
NDP | Exudative vitreoretinopathy 2 X-linked, | 305390 |
NDP | Norrie disease, | 310600 |
NEK2 | ?Retinitis pigmentosa 67 | 615565 |
NEUROD1 | Maturity-onset diabetes of the young 6 | 606394 |
NEUROD1 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
NEUROD1 | Retinitis pigmentosa, autosomal recessive (Wang -2015 Invest Ophthalmol Vis Sci 56,150) | 125853 |
NHS | Cataract 40 X-linked, | 302200 |
NHS | Nance-Horan syndrome, | 302350 |
NMNAT1 | Leber congenital amaurosis 9 | 608553 |
NPHP1 | Joubert syndrome 4 | 609583 |
NPHP1 | Nephronophthisis 1 juvenile, | 256100 |
NPHP1 | Senior-Loken syndrome-1, | 266900 |
NPHP3 | Meckel syndrome 7 | 267010 |
NPHP3 | Nephronophthisis 3 | 604387 |
NPHP3 | Renal-hepatic-pancreatic dysplasia 1 | 208540 |
NPHP4 | Nephronophthisis 4 | 606966 |
NPHP4 | Senior-Loken syndrome 4 | 606996 |
NR2E3 | Enhanced S-cone syndrome, | 268100 |
NR2E3 | Retinitis pigmentosa 37 | 611131 |
NR2F1 | Bosch-Boonstra-Schaaf optic atrophy syndrome, | 615722 |
NRL | Retinal degeneration, autosomal recessive, clumped pigment type | 615722 |
NRL | Retinitis pigmentosa 27 | 613750 |
NYX | Night blindness, congenital stationary (complete), 1A, X-linked, | 310500 |
OAT | Gyrate atrophy of choroid and retina with or without ornithinemia, | 258870 |
OCA2 | Albinism, brown oculocutaneous, | 203200 |
OCA2 | Albinism, oculocutaneous, type II, | 203200 |
OCA2 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
OCA2 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
OFD1 | Joubert syndrome 10 | 300804 |
OFD1 | Orofaciodigital syndrome I, | 311200 |
OFD1 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
OFD1 | ?Retinitis pigmentosa 23 | 300424 |
OPA1 | Behr syndrome, | 210000 |
OPA1 | Optic atrophy 1 | 165500 |
OPA1 | Optic atrophy plus syndrome, | 125250 |
OPA1 | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), | 616896 |
OPA1 | {Glaucoma, normal tension, susceptibility to}, | 606657 |
OPA3 | 3-methylglutaconic aciduria, type III, | 258501 |
OPA3 | Optic atrophy 3 with cataract, | 165300 |
OPN1LW | Blue cone monochromacy, | 303700 |
OPN1LW | Colorblindness, protan, | 303900 |
OPN1MW | Blue cone monochromacy, | 303700 |
OPN1MW | Colorblindness, deutan, | 303800 |
OTX2 | Microphthalmia, syndromic 5 | 610125 |
OTX2 | Pituitary hormone deficiency, combined, 6 | 613986 |
OTX2 | Retinal dystrophy, early-onset, with or without pituitary dysfunction, | 610125 |
PANK2 | HARP syndrome, | 607236 |
PANK2 | Neurodegeneration with brain iron accumulation 1 | 234200 |
PAX2 | Glomerulosclerosis, focal segmental, 7 | 616002 |
PAX2 | Papillorenal syndrome, | 120330 |
PAX6 | Aniridia, | 106210 |
PAX6 | Cataract with late-onset corneal dystrophy, | 106210 |
PAX6 | Coloboma of optic nerve, | 120430 |
PAX6 | Coloboma, ocular, | 120200 |
PAX6 | Foveal hypoplasia 1 | 136520 |
PAX6 | Keratitis, | 148190 |
PAX6 | Optic nerve hypoplasia, | 165550 |
PAX6 | Peters anomaly, | 604229 |
PAX6 | ?Morning glory disc anomaly, | 120430 |
PCDH15 | Deafness, autosomal recessive 23 | 609533 |
PCDH15 | Usher syndrome, type 1D/F digenic, | 601067 |
PCDH15 | Usher syndrome, type 1F, | 602083 |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy, | 608940 |
PDE6A | Retinitis pigmentosa 43 | 613810 |
PDE6B | Night blindness, congenital stationary, autosomal dominant 2 | 163500 |
PDE6B | Retinitis pigmentosa-40, | 613801 |
PDE6C | Cone dystrophy 4 | 613093 |
PDE6D | ?Joubert syndrome 22 | 615665 |
PDE6G | Retinitis pigmentosa 57 | 613582 |
PDE6H | Achromatopsia 6 | 610024 |
PDE6H | Retinal cone dystrophy 3 | 610024 |
PDZD7 | Usher syndrome, type IIC, GPR98/PDZD7 digenic, | 605472 |
PDZD7 | {Retinal disease in Usher syndrome type IIA, modifier of}, | 276901 |
PET100 | Mitochondrial complex IV deficiency, | 220110 |
PEX1 | Heimler syndrome 1 | 234580 |
PEX1 | Peroxisome biogenesis disorder 1A (Zellweger), | 214100 |
PEX1 | Peroxisome biogenesis disorder 1B (NALD/IRD), | 601539 |
PEX2 | Peroxisome biogenesis disorder 5A (Zellweger), | 614866 |
PEX2 | Peroxisome biogenesis disorder 5B, | 614867 |
PEX7 | Peroxisome biogenesis disorder 9B, | 614879 |
PEX7 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
PGK1 | Phosphoglycerate kinase 1 deficiency, | 300653 |
PHYH | Refsum disease, | 266500 |
PIKFYVE | Corneal fleck dystrophy, | 121850 |
PITX2 | Axenfeld-Rieger syndrome, type 1 | 180500 |
PITX2 | Iridogoniodysgenesis, type 2 | 137600 |
PITX2 | Peters anomaly, | 604229 |
PITX2 | Ring dermoid of cornea, | 180550 |
PITX3 | Anterior segment mesenchymal dysgenesis, | 107250 |
PITX3 | Cataract 11 multiple types, | 610623 |
PITX3 | Cataract 11 syndromic, | 610623 |
PLA2G5 | [Fleck retina, familial benign], | 228980 |
PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | 616171 |
PNPLA6 | Boucher-Neuhauser syndrome, | 215470 |
PNPLA6 | Oliver-McFarlane syndrome, | 275400 |
PNPLA6 | Spastic paraplegia 39 autosomal recessive, | 612020 |
PNPLA6 | ?Laurence-Moon syndrome, | 245800 |
POC1B | Cone-rod dystrophy 20 | 615973 |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 |
POMGNT1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 |
PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
PRCD | Retinitis pigmentosa 36 | 610599 |
PROM1 | Cone-rod dystrophy 12 | 612657 |
PROM1 | Macular dystrophy, retinal, 2 | 608051 |
PROM1 | Retinitis pigmentosa 41 | 612095 |
PROM1 | Stargardt disease 4 | 603786 |
PRPF3 | Retinitis pigmentosa 18 | 601414 |
PRPF31 | Retinitis pigmentosa 11 | 600138 |
PRPF4 | Retinitis pigmentosa 70 | 615922 |
PRPF6 | Retinitis pigmentosa 60 | 613983 |
PRPF8 | Retinitis pigmentosa 13 | 600059 |
PRPH2 | Choriodal dystrophy, central areolar 2 | 613105 |
PRPH2 | Leber congenital amaurosis 18 | 608133 |
PRPH2 | Macular dystrophy, patterned, 1 | 169150 |
PRPH2 | Macular dystrophy, vitelliform, 3 | 608161 |
PRPH2 | Retinitis pigmentosa 7 and digenic, | 608133 |
PRPH2 | Retinitis punctata albescens, | 136880 |
PRSS56 | Microphthalmia, isolated 6 | 613517 |
PXDN | Corneal opacification and other ocular anomalies, | 269400 |
RAB28 | Cone-rod dystrophy 18 | 615374 |
RARB | Microphthalmia, syndromic 12 | 615524 |
RAX2 | ?Macular degeneration, age-related, 6 | 613757 |
RAX2 | Cone-rod dystrophy 11 | 610381 |
RBP3 | ?Retinitis pigmentosa 66 | 615233 |
RBP4 | Microphthalmia, isolated, with coloboma 10 | 616428 |
RBP4 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, | 615147 |
RCBTB1 | [Beta-glycopyranoside tasting] | 615147 |
RCBTB1 | {Alcohol dependence, susceptibility to}, | 103780 |
RD3 | Leber congenital amaurosis 12 | 610612 |
RDH11 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, | 616108 |
RDH12 | Leber congenital amaurosis 13 | 612712 |
RDH5 | Fundus albipunctatus, | 136880 |
RGR | Retinitis pigmentosa 44 | 613769 |
RGS9 | Bradyopsia, | 608415 |
RGS9BP | Bradyopsia, | 608415 |
RHO | Night blindness, congenital stationary, autosomal dominant 1 | 610445 |
RHO | Retinitis pigmentosa 4 autosomal dominant or recessive, | 613731 |
RHO | Retinitis punctata albescens, | 136880 |
RIMS1 | Cone-rod dystrophy 7 | 603649 |
RLBP1 | Bothnia retinal dystrophy, | 607475 |
RLBP1 | Fundus albipunctatus, | 136880 |
RLBP1 | Newfoundland rod-cone dystrophy, | 607476 |
RLBP1 | Retinitis punctata albescens, | 136880 |
ROM1 | Retinitis pigmentosa 7 digenic, | 608133 |
RP1 | Retinitis pigmentosa 1 | 180100 |
RP1L1 | Occult macular dystrophy, | 613587 |
RP2 | Retinitis pigmentosa 2 | 312600 |
RP9 | ?Retinitis pigmentosa 9 | 180104 |
RPE65 | Leber congenital amaurosis 2 | 204100 |
RPE65 | Retinitis pigmentosa 20 | 613794 |
RPGR | Cone-rod dystrophy, X-linked, 1 | 304020 |
RPGR | Macular degeneration, X-linked atrophic, | 300834 |
RPGR | Retinitis pigmentosa 3 | 300029 |
RPGR | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, | 300455 |
RPGRIP1 | Cone-rod dystrophy 13 | 608194 |
RPGRIP1 | Leber congenital amaurosis 6 | 613826 |
RPGRIP1L | COACH syndrome, | 216360 |
RPGRIP1L | Joubert syndrome 7 | 611560 |
RPGRIP1L | Meckel syndrome 5 | 611561 |
RS1 | Retinoschisis, | 312700 |
RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures, | 616732 |
SAG | Oguchi disease-1, | 258100 |
SAG | Retinitis pigmentosa 47 | 613758 |
SDCCAG8 | Bardet-Biedl syndrome 16 | 615993 |
SDCCAG8 | Senior-Loken syndrome 7 | 613615 |
SEMA4A | Cone-rod dystrophy 10 | 610283 |
SEMA4A | Retinitis pigmentosa 35 | 610282 |
SHH | Holoprosencephaly-3, | 142945 |
SHH | Microphthalmia with coloboma 5 | 611638 |
SHH | Schizencephaly, | 269160 |
SHH | Single median maxillary central incisor, | 147250 |
SIPA1L3 | ?Cataract 45 | 616851 |
SIX6 | Optic disc anomalies with retinal and/or macular dystrophy, | 212550 |
SLC16A12 | Cataract, juvenile, with microcornea and glucosuria, | 612018 |
SLC24A1 | Night blindness, congenital stationary (complete), 1D, autosomal recessive, | 613830 |
SLC24A5 | Albinism, oculocutaneous, type VI, | 113750 |
SLC24A5 | [Skin/hair/eye pigmentation 4 fair/dark skin], | 113750 |
SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB, | 616505 |
SLC33A1 | Congenital cataracts, hearing loss, and neurodegeneration, | 614482 |
SLC33A1 | Spastic paraplegia 42 autosomal dominant, | 612539 |
SLC38A8 | Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, | 612539 |
SLC38A8 | Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, | 609218 |
SLC45A2 | Albinism, oculocutaneous, type IV, | 606574 |
SLC45A2 | [Skin/hair/eye pigmentation 5 black/nonblack hair], | 227240 |
SLC45A2 | [Skin/hair/eye pigmentation 5 dark/fair skin], | 227240 |
SLC45A2 | [Skin/hair/eye pigmentation 5 dark/light eyes], | 227240 |
SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 |
SLC4A11 | Corneal endothelial dystrophy 2 autosomal recessive, | 217700 |
SLC4A11 | Corneal endothelial dystrophy and perceptive deafness, | 217400 |
SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 | 614707 |
SLC7A14 | Retinitis pigmentosa 68 | 615725 |
SNRNP200 | Retinitis pigmentosa 33 | 610359 |
SOX2 | Microphthalmia, syndromic 3 | 206900 |
SOX2 | Optic nerve hypoplasia and abnormalities of the central nervous system, | 206900 |
SPATA7 | Leber congenital amaurosis 3 | 604232 |
SPATA7 | Retinitis pigmentosa, juvenile, autosomal recessive, | 604232 |
SPP2 | No OMIM phenotype | 604232 |
SPP2 | Retinitis pigmentosa (Li -2015 Sci Rep 5,14867) | 604232 |
SPP2 | ?Autism (Neale -2012 Nature 485,242) | 604232 |
STRA6 | Microphthalmia, isolated, with coloboma 8 | 601186 |
STRA6 | Microphthalmia, syndromic 9 | 601186 |
TACSTD2 | Corneal dystrophy, gelatinous drop-like, | 204870 |
TCTN1 | Joubert syndrome 13 | 614173 |
TCTN3 | Joubert syndrome 18 | 614815 |
TCTN3 | Orofaciodigital syndrome IV, | 258860 |
TDRD7 | Cataract 36 | 613887 |
TEAD1 | Sveinsson choreoretinal atrophy, | 108985 |
TENM3 | Microphthalmia, isolated, with coloboma 9 | 615145 |
TGFBI | Corneal dystrophy, Avellino type, | 607541 |
TGFBI | Corneal dystrophy, epithelial basement membrane, | 121820 |
TGFBI | Corneal dystrophy, Groenouw type I, | 121900 |
TGFBI | Corneal dystrophy, lattice type I, | 122200 |
TGFBI | Corneal dystrophy, lattice type IIIA, | 608471 |
TGFBI | Corneal dystrophy, Reis-Bucklers type, | 608470 |
TGFBI | Corneal dystrophy, Thiel-Behnke type, | 602082 |
TIMM8A | Jensen syndrome, | 311150 |
TIMM8A | Mohr-Tranebjaerg syndrome, | 304700 |
TIMP3 | Sorsby fundus dystrophy, | 136900 |
TMEM126A | Optic atrophy 7 | 612989 |
TMEM138 | Joubert syndrome 16 | 614465 |
TMEM231 | Joubert syndrome 20 | 614970 |
TMEM231 | Meckel syndrome 11 | 615397 |
TMEM237 | Joubert syndrome 14 | 614424 |
TMEM67 | COACH syndrome, | 216360 |
TMEM67 | Joubert syndrome 6 | 610688 |
TMEM67 | Meckel syndrome 3 | 607361 |
TMEM67 | Nephronophthisis 11 | 613550 |
TMEM67 | {Bardet-Biedl syndrome 14 modifier of}, | 615991 |
TOPORS | Retinitis pigmentosa 31 | 609923 |
TPP1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 |
TPP1 | Spinocerebellar ataxia, autosomal recessive 7 | 609270 |
TRAF3IP1 | Senior-Loken syndrome 9 | 616629 |
TREX1 | Aicardi-Goutieres syndrome 1 dominant and recessive, | 225750 |
TREX1 | Chilblain lupus, | 610448 |
TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy, | 192315 |
TREX1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
TRIM32 | Muscular dystrophy, limb-girdle, type 2H, | 254110 |
TRIM32 | ?Bardet-Biedl syndrome 11 | 615988 |
TRNT1 | Retinitis pigmentosa and erythrocytic microcytosis, | 616959 |
TRNT1 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, | 616084 |
TRPM1 | Night blindness, congenital stationary (complete), 1C, autosomal recessive, | 613216 |
TSPAN12 | Exudative vitreoretinopathy 5 | 613310 |
TTC8 | Bardet-Biedl syndrome 8 | 615985 |
TTC8 | ?Retinitis pigmentosa 51 | 613464 |
TTLL5 | Cone-rod dystrophy 19 | 615860 |
TUB | ?Retinal dystrophy and obesity, | 616188 |
TUBGCP4 | Microcephaly and chorioretinopathy, autosomal recessive, 3 | 616335 |
TULP1 | Leber congenital amaurosis 15 | 613843 |
TULP1 | Retinitis pigmentosa 14 | 600132 |
TYR | Albinism, oculocutaneous, type IA, | 203100 |
TYR | Albinism, oculocutaneous, type IB, | 606952 |
TYR | Waardenburg syndrome/albinism, digenic, | 103470 |
TYR | [Skin/hair/eye pigmentation 3 blue/green eyes], | 601800 |
TYR | [Skin/hair/eye pigmentation 3 light/dark/freckling skin], | 601800 |
TYR | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 601800 |
TYRP1 | Albinism, oculocutaneous, type III, | 203290 |
TYRP1 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], | 612271 |
UBIAD1 | Corneal dystrophy, Schnyder type, | 121800 |
UNC119 | ?Cone-rod dystrophy | 121800 |
UNC119 | ?Immunodeficiency 13 | 615518 |
UNC45B | ?Cataract 43 | 616279 |
USH1C | Deafness, autosomal recessive 18A, | 602092 |
USH1C | Usher syndrome, type 1C, | 276904 |
USH1G | Usher syndrome, type 1G, | 606943 |
USH2A | Retinitis pigmentosa 39 | 613809 |
USH2A | Usher syndrome, type 2A, | 276901 |
VAX1 | ?Microphthalmia, syndromic 11 | 614402 |
VCAN | Wagner syndrome 1 | 143200 |
VIM | ?Cataract 30 pulverulent, | 116300 |
VSX1 | Keratoconus 1 | 148300 |
VSX1 | ?Craniofacial anomalies and anterior segment dysgenesis syndrome, | 614195 |
VSX2 | Microphthalmia with coloboma 3 | 610092 |
VSX2 | Microphthalmia, isolated 2 | 610093 |
WDPCP | ?Bardet-Biedl syndrome 15 | 615992 |
WDPCP | ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, | 217085 |
WDR19 | Nephronophthisis 13 | 614377 |
WDR19 | Senior-Loken syndrome 8 | 616307 |
WDR19 | ?Cranioectodermal dysplasia 4 | 614378 |
WDR19 | ?Short-rib thoracic dysplasia 5 with or without polydactyly, | 614376 |
WFS1 | Deafness, autosomal dominant 6/14/38, | 600965 |
WFS1 | Wolfram syndrome, | 222300 |
WFS1 | Wolfram-like syndrome, autosomal dominant, | 614296 |
WFS1 | ?Cataract 41 | 116400 |
WFS1 | {Diabetes mellitus, noninsulin-dependent, association with}, | 125853 |
WRN | Werner syndrome, | 277700 |
YAP1 | Coloboma, ocular, | 120433 |
YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, | 120433 |
YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, | 120433 |
ZEB1 | Corneal dystrophy, Fuchs endothelial, 6 | 613270 |
ZEB1 | Corneal dystrophy, posterior polymorphous, 3 | 609141 |
ZNF408 | Retinitis pigmentosa 72 | 616469 |
ZNF408 | ?Exudative vitreoretinopathy 6 | 616468 |
ZNF423 | Joubert syndrome 19 | 614844 |
ZNF423 | Nephronophthisis 14 | 614844 |
ZNF513 | Retinitis pigmentosa 58 | 613617 |
ZNF644 | Myopia 21 autosomal dominant, | 614167 |
Un estudio genético oftalmológico diseñado y avalado por genetistas clínicos con más de 10 años de experiencia
- Panel de secuenciación masiva (Next Generation Sequencing – NGS) que analiza las regiones codificantes de 515 genes asociados con enfermedades oftalmológicas
- Identifica mutaciones causantes en un panel bioinformático de diseño propio basado en tecnología Illumina continuamente actualizado
- Informe de resultados claro, preciso, entregado en 10 semanas
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Ensayos clínicos en curso en la red europea de enfermedades oculares raras
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Alemania)
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Francia)
XOLARIS – Historia natural de la progresión de la retinosis pigmentaria ligada al X (retinosis pigmentaria ligada a X, Reino Unido)
Manejo terapéutico de pacientes con edema macular cistoide secundario (retinosis pigmentaria)
VITAL (síndrome de USHER inducido por mutación de MYO7A y retinotosis pigmentaria)
Argus® II Protocolo de viabilidad del sistema de estimulación retiniana (retinotosis pigmentaria)
qGenVision es un producto de qGenomics
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Asesoramiento genético: nuestro equipo de asesores genéticos acreditados a nivel europeo puede ayudar al oftalmólogo con el manejo de la información genética al paciente tanto antes como después del test.
Amplia cartera de pruebas genéticas: tenemos amplia experiencia en genética clínica humana y podemos realizar cualquier técnica de genética molecular si hubiera una mejor estrategia diagnóstica para cada paciente.
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Es un reflejo de la confianza prestada por hospitales en todo el mundo.
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