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:0000563 | HP:0000563 | Keratoconus | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 826 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 175 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 114 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | HP:0040283 - Occasional | | | 114 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 6 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 29 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 114 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 97 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 182 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 23 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 147 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 342 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 71 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 60 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 44 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 164 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 156 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 156 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 158 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRX CL E G H | 1406 | 2383 | OMIM:613829 | Leber congenital amaurosis 7 | . | | | 158 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 158 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 209 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 56 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 26 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 64 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 36 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 124 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 86 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 148 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 148 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 52 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 52 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 120 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 61 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 42 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 3 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 42 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 70 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 62 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 62 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 53 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 75 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | MIR184 CL E G H | 406960 | 31555 | OMIM:614303 | Edict syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 15 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 58 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 30 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 201 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 11 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 116 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 126 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 18 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 180 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 39 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | . | | | 58 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 110 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 70 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 2 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 51 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 94 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 159 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 108 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 95 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 45 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 5 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 28 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 107 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 47 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 38 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 111 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 284 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 45 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 129 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 129 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 200 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 109 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 32 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 4 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 83 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 48 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 48 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 61 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 41 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 1 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 66 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 66 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 777 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:148300 | Keratoconus 1 | . | | | 47 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 14 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0000563 | HP:0000563 | Keratoconus | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040282 - Frequent | | | 27 | | |