Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 826 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | | | | 826 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | | | | 826 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ADAM9 CL E G H | 8754 | 216 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 41 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 530 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AGBL1 CL E G H | 123624 | 26504 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | . | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | | | | 175 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AHR CL E G H | 196 | 348 | OMIM:618345 | RETINITIS PIGMENTOSA 85; RP85 | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 114 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:268000 | Retinitis pigmentosa | . | | | 114 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | | | | 6 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARHGEF18 CL E G H | 23370 | 17090 | OMIM:617433 | Retinitis pigmentosa 78 | . | | | 6 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | | | | 29 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:268000 | Retinitis pigmentosa | . | | | 29 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | | | | 114 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | | | | 97 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BBS4 CL E G H | 585 | 969 | OMIM:615982 | Bardet-Biedl syndrome 4 | | | | 87 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | | | | 182 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | | | | 182 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | | | | 20 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | | | | 23 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 147 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | | | | 147 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | | | | 71 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | . | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:268000 | Retinitis pigmentosa | . | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLEC3B CL E G H | 7123 | 11891 | OMIM:619977 | | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | | | | 60 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:268000 | Retinitis pigmentosa | . | | | 60 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:276902 | Usher syndrome, type IIIA | . | | | 60 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:268000 | Retinitis pigmentosa | . | | | 44 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | | | | 44 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | | | | 164 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | | | | 156 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | . | | | 156 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 158 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRX CL E G H | 1406 | 2383 | OMIM:268000 | Retinitis pigmentosa | . | | | 158 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | | | | 158 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DRAM2 CL E G H | 128338 | 28769 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | DRAM2 CL E G H | 128338 | 28769 | OMIM:616502 | Cone-Rod dystrophy 21 | HP:0040283 - Occasional | | | 9 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | | | | 209 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | | | | 56 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | | | | 26 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | HP:0040280 - Obligate | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 39 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:610444 | Night blindness, congenital stationary, autosomal dominant 3 | | | | 39 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | | | | 39 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | . | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GRK1 CL E G H | 6011 | 10013 | OMIM:613411 | OGUCHI DISEASE 2 | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 63 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GRM6 CL E G H | 2916 | 4598 | OMIM:257270 | Night blindness, congenital stationary, type 1B | . | | | 63 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040284 - Very rare | | | 24 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | | | | 36 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040284 - Very rare | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:618555 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I | | | | 124 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | | | | 86 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:616544 | Retinitis pigmentosa 73 | . | | | 86 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040283 - Occasional | | | 26 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | | | | 148 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | | | | 52 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | | | | 120 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | | | | 111 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | HP:0040283 - Occasional | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:614186 | Leber congenital amaurosis 16 | . | | | 42 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | | | | 42 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:268000 | Retinitis pigmentosa | . | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 54 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | LRIT3 CL E G H | 345193 | 24783 | OMIM:615058 | Night blindness, congenital stationary, type 1F | | | | 54 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | | | | 53 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | . | | | 53 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | | | | 75 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MERTK CL E G H | 10461 | 7027 | OMIM:613862 | Retinitis pigmentosa 38 | . | | | 75 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040284 - Very rare | | | 203 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MMP19 CL E G H | 4327 | 7165 | OMIM:611543 | Cavitary optic disc anomalies | HP:0040283 - Occasional | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MYO6 CL E G H | 4646 | 7605 | OMIM:607821 | Deafness, autosomal recessive 37 | | | | 179 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 15 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | HP:0040283 - Occasional | | | 15 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | . | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | | | | 30 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 42 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | | | | 42 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | | | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | | | | 201 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | OPN1LW CL E G H | 5956 | 9936 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | OPN1MW CL E G H | 2652 | 4206 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | . | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | | | | 116 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:163500 | Night blindness, congenital stationary, autosomal dominant 2 | | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:268000 | Retinitis pigmentosa | . | | | 18 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | | | | 18 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 40 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 72 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040282 - Frequent | | | 45 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PITPNM3 CL E G H | 83394 | 21043 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | POC1B CL E G H | 282809 | 30836 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 3 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | | | | 180 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | | | | 39 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 110 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | | | | 110 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF3 CL E G H | 9129 | 17348 | OMIM:601414 | Retinitis pigmentosa 18 | . | | | 28 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | | | | 70 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF4 CL E G H | 9128 | 17349 | OMIM:615922 | Retinitis pigmentosa 70 | . | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | | | | 51 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | | | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | . | HP:0003621 - Juvenile onset | | 94 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040284 - Very rare | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | . | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:169150 | Macular dystrophy, patterned, 1 | HP:0040283 - Occasional | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RAB28 CL E G H | 9364 | 9768 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 6 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RAX2 CL E G H | 84839 | 18286 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 52 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:268000 | Retinitis pigmentosa | . | | | 108 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | | | | 108 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | . | | | 108 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | | 2 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | . | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | REEP6 CL E G H | 92840 | 30078 | OMIM:617304 | Retinitis pigmentosa 77 | . | | | 5 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | | | | 28 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | . | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 107 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RIMS1 CL E G H | 22999 | 17282 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 102 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607475 | Bothnia retinal dystrophy | . | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | . | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | OMIM:607476 | NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD | | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040281 - Very frequent | | | 47 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:268000 | Retinitis pigmentosa | . | | | 38 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | | | | 38 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | | | | 111 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | | | | 284 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | | | | 45 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | . | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 200 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | | | | 200 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 109 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SAG CL E G H | 6295 | 10521 | OMIM:258100 | Oguchi disease 1 | | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SLC24A1 CL E G H | 9187 | 10975 | OMIM:613830 | Night blindness, congenital stationary, type 1D | | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SLC4A11 CL E G H | 83959 | 16438 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SLC7A14 CL E G H | 57709 | 29326 | OMIM:615725 | Retinitis pigmentosa 68 | . | | | 4 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | | | | 83 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SPATA7 CL E G H | 55812 | 20423 | OMIM:604232 | LEBER CONGENITAL AMAUROSIS 3; LCA3 | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | HP:0040283 - Occasional | | | 31 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 241 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040282 - Frequent | | | 95 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TLCD3B CL E G H | 83723 | 25295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | | | | 61 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 104 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TRPM1 CL E G H | 4308 | 7146 | OMIM:613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | | | | 104 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | | | | 41 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TTLL5 CL E G H | 23093 | 19963 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040282 - Frequent | | | 62 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | | | | 1 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | UNC119 CL E G H | 9094 | 12565 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 30 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | | | | 777 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 777 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | | | | 95 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040281 - Very frequent | | | 155 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98974 | Fuchs endothelial corneal dystrophy | | | | 8 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | | | | 14 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | | | | 27 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |
HP:0000662 | HP:0000662 | Nyctalopia | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | AHR CL E G H | 196 | 348 | OMIM:618345 | RETINITIS PIGMENTOSA 85; RP85 | | | | 2 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000662 | HP:0007830 | Adult-onset night blindness | 1 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | | | | 94 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | | | | 58 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | . | | | 58 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | | | | 129 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | | | | 39 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GNAT1 CL E G H | 2779 | 4393 | OMIM:610444 | Night blindness, congenital stationary, autosomal dominant 3 | . | | | 39 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GNAT1 CL E G H | 2779 | 4393 | OMIM:616389 | Night blindness, congenital stationary, type 1G | . | | | 39 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | | | | 5 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | | | | 124 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GPR179 CL E G H | 440435 | 31371 | OMIM:614565 | Night blindness, congenital stationary, type 1E | . | | | 124 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | | | | 4 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GRK1 CL E G H | 6011 | 10013 | OMIM:613411 | OGUCHI DISEASE 2 | | | | 4 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | | | | 63 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | GRM6 CL E G H | 2916 | 4598 | OMIM:257270 | Night blindness, congenital stationary, type 1B | . | | | 63 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:75858 | MORM syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | | | | 54 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | LRIT3 CL E G H | 345193 | 24783 | OMIM:615058 | Night blindness, congenital stationary, type 1F | . | | | 54 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | MYO6 CL E G H | 4646 | 7605 | OMIM:607821 | Deafness, autosomal recessive 37 | HP:0040283 - Occasional | | | 179 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | | | | 42 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | NYX CL E G H | 60506 | 8082 | OMIM:310500 | Night blindness, congenital stationary, type 1A | . | | | 42 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040282 - Frequent | | | 94 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | | | | 126 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | PDE6B CL E G H | 5158 | 8786 | OMIM:163500 | Night blindness, congenital stationary, autosomal dominant 2 | . | | | 126 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | | | | 159 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000662 | HP:0007830 | Adult-onset night blindness | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 159 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | | | | 32 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | | | | 107 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | | | | 107 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | | | | 47 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000662 | HP:0007830 | Adult-onset night blindness | 1 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | . | | | 38 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | | | | 32 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040281 - Very frequent | | | 32 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | SAG CL E G H | 6295 | 10521 | OMIM:258100 | Oguchi disease 1 | . | | | 32 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | | | | 66 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | SLC24A1 CL E G H | 9187 | 10975 | OMIM:613830 | Night blindness, congenital stationary, type 1D | . | | | 66 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | | | | 104 | | |
HP:0000662 | HP:0007642 | Congenital stationary night blindness | 1 | TRPM1 CL E G H | 4308 | 7146 | OMIM:613216 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C | | | | 104 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000662 | HP:0007675 | Progressive night blindness | 1 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 94 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 94 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 58 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 58 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 129 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 129 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 39 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 39 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 5 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 5 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 124 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 124 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 4 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 4 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 63 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 63 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 54 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 54 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 42 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 42 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 126 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 126 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | | | | 159 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | | | | 32 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 107 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 107 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | | | | 107 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | | | | 47 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 32 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 32 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 66 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 66 | | |
HP:0000662 | HP:0030638 | Congenital stationary night blindness with normal fundus | 2 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 104 | | |
HP:0000662 | HP:0030639 | Congenital stationary night blindness with abnormal fundus | 2 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040282 - Frequent | | | 104 | | |
HP:0000662 | HP:0030641 | Incomplete congenital stationary night blindness | 3 | CL E G H | | | | | | | | | | |
HP:0000662 | HP:0030640 | Complete congenital stationary night blindness | 3 | CL E G H | | | | | | | | | | |
HP:0000662 | HP:0030642 | Fundus albipunctatus | 3 | PRPH2 CL E G H | 5961 | 9942 | OMIM:136880 | Fundus albipunctatus | . | | | 159 | | |
HP:0000662 | HP:0030642 | Fundus albipunctatus | 3 | RDH5 CL E G H | 5959 | 9940 | OMIM:136880 | Fundus albipunctatus | . | | | 32 | | |
HP:0000662 | HP:0030642 | Fundus albipunctatus | 3 | RHO CL E G H | 6010 | 10012 | OMIM:136880 | Fundus albipunctatus | . | | | 107 | | |
HP:0000662 | HP:0030642 | Fundus albipunctatus | 3 | RLBP1 CL E G H | 6017 | 10024 | OMIM:136880 | Fundus albipunctatus | . | | | 47 | | |