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:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | . | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | | | | 39 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | . | | | 107 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | | | | 107 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | . | | | 777 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0007737 | HP:0007737 | Bone spicule pigmentation of the retina | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |