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:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | | | | 48 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040282 - Frequent | | | 95 | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0030602 | HP:0030602 | Abnormal fundus autofluorescence imaging | 0 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0030602 | HP:0030630 | Irregular central macular autofluorescence | 1 | CL E G H | | | | | | | | | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 86 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 57 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | CWC27 CL E G H | 10283 | 10664 | OMIM:250410 | Retinitis pigmentosa with or without skeletal anomalies | | | | 4 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 54 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:616394 | Retinitis pigmentosa 71 | | | | 48 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | KIF3B CL E G H | 9371 | 6320 | OMIM:618955 | RETINITIS PIGMENTOSA 89; RP89 | | | | | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0030602 | HP:0025159 | Hypoautofluorescent retinal lesion | 1 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0030602 | HP:0025158 | Hyperautofluorescent retinal lesion | 1 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0030602 | HP:0030629 | Perifoveal ring of hyperautofluorescence | 1 | TTLL5 CL E G H | 23093 | 19963 | OMIM:615860 | Cone-Rod dystrophy 19 | | | | 9 | | |
HP:0030602 | HP:0030633 | Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence | 2 | CL E G H | | | | | | | | | | |
HP:0030602 | HP:0030634 | Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence | 2 | CL E G H | | | | | | | | | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030602 | HP:0030632 | Hypoautofluorescent macular lesion | 2 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 86 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 86 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 57 | | |
HP:0030602 | HP:0030632 | Hypoautofluorescent macular lesion | 2 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 57 | | |
HP:0030602 | HP:0030632 | Hypoautofluorescent macular lesion | 2 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 54 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 54 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040281 - Very frequent | | | 124 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040281 - Very frequent | | | 159 | | |
HP:0030602 | HP:0030632 | Hypoautofluorescent macular lesion | 2 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0030602 | HP:0034272 | Perifoveal hypoautofluorescence | 2 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0030602 | HP:0030631 | Hyperautofluorescent macular lesion | 2 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |