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:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ADAM9 CL E G H | 8754 | 216 | OMIM:612775 | Cone-Rod dystrophy 9 | . | | | 41 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | AIPL1 CL E G H | 23746 | 359 | OMIM:604393 | Leber congenital amaurosis 4 | . | | | 114 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | | | | | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040281 - Very frequent | | | 8 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | . | | | 58 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | . | | | 24 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PDE6C CL E G H | 5146 | 8787 | OMIM:613093 | Cone dystrophy 4 | . | | | 80 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | . | | | 14 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | . | | | 135 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | . | | | 3 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:608194 | CONE-ROD DYSTROPHY 13; CORD13 | | | | 109 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610282 | Retinitis pigmentosa 35 | . | | | 48 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0000548 | HP:0000548 | Cone/cone-rod dystrophy | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | . | | | 9 | | |
HP:0000548 | HP:0008020 | Cone dystrophy | 1 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | . | | | 14 | | |