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:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 10 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | | | | 182 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CERKL CL E G H | 375298 | 21699 | OMIM:608380 | Retinitis pigmentosa 26 | | | | 71 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 82 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 194 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | GGCX CL E G H | 2677 | 4247 | ORPHA:436274 | Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 19 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | | | | 124 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | . | | | 48 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | . | | | 15 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | . | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 80 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | . | | | 18 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 14 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | . | | | 39 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | | | | 107 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | | | | 129 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:613794 | Retinitis pigmentosa 20 | . | | | 129 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 200 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | TOPORS CL E G H | 10210 | 21653 | OMIM:609923 | Retinitis pigmentosa 31 | | | | 61 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | | | | 1 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | . | | | 777 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | USP45 CL E G H | 85015 | 20080 | OMIM:618513 | LEBER CONGENITAL AMAUROSIS 19; LCA19 | | | | | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0007843 | HP:0007843 | Attenuation of retinal blood vessels | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |