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:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:248200 | Stargardt disease 1 | | | | 826 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | ADAR CL E G H | 103 | 225 | ORPHA:41 | Dyschromatosis symmetrica hereditaria | | | | 116 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | | | | 58 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040281 - Very frequent | | | 87 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | | | | 141 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | | | | 4 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:136550 | Macular dystrophy, retinal, 1, north Carolina type | . | | | | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 124 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | | | | 120 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040282 - Frequent | | | 101 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | | | | 121 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | HP:0040283 - Occasional | | | 7 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | HP:0040283 - Occasional | | | 5 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | | | | 6 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | | | | 52 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RD3 CL E G H | 343035 | 19689 | OMIM:610612 | Leber congenital amaurosis 12 | . | | | 95 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | | | | 13 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0008002 | HP:0008002 | Abnormality of macular pigmentation | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:248200 | Stargardt disease 1 | | | | 826 | | |
HP:0008002 | HP:0007988 | Macular hypopigmentation | 1 | ADAR CL E G H | 103 | 225 | ORPHA:41 | Dyschromatosis symmetrica hereditaria | HP:0040281 - Very frequent | | | 116 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | ADAR CL E G H | 103 | 225 | ORPHA:41 | Dyschromatosis symmetrica hereditaria | HP:0040281 - Very frequent | | | 116 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0008002 | HP:0025147 | Beaten bronze macular sheen | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 86 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 57 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | | | | 141 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 54 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0008002 | HP:0007988 | Macular hypopigmentation | 1 | IFT74 CL E G H | 80173 | 21424 | OMIM:617119 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 3 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | | | | 4 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0008002 | HP:0007988 | Macular hypopigmentation | 1 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | MFSD8 CL E G H | 256471 | 28486 | OMIM:616170 | Macular dystrophy with central cone involvement | HP:0040283 - Occasional | | | 120 | | |
HP:0008002 | HP:0007988 | Macular hypopigmentation | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0008002 | HP:0007988 | Macular hypopigmentation | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0008002 | HP:0011509 | Macular hyperpigmentation | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:612657 | CONE-ROD DYSTROPHY 12; CORD12 | | | | 110 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | | | | 6 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | . | | | 52 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | RIMS1 CL E G H | 22999 | 17282 | OMIM:603649 | CONE-ROD DYSTROPHY 7; CORD7 | | | | 102 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0008002 | HP:0030493 | Abnormality of foveal pigmentation | 1 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | | | | 13 | | |
HP:0008002 | HP:0007793 | Granular macular appearance | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0008002 | HP:0011504 | Bull's eye maculopathy | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0008002 | HP:0012643 | Foveal hypopigmentation | 2 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | 39 | | |
HP:0008002 | HP:0012643 | Foveal hypopigmentation | 2 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | | | |
HP:0008002 | HP:0012643 | Foveal hypopigmentation | 2 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | | | |
HP:0008002 | HP:0008001 | Foveal hyperpigmentation | 2 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | . | | | 141 | | |
HP:0008002 | HP:0012643 | Foveal hypopigmentation | 2 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | 262 | | |
HP:0008002 | HP:0008001 | Foveal hyperpigmentation | 2 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | . | | | 4 | | |
HP:0008002 | HP:0008001 | Foveal hyperpigmentation | 2 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0008002 | HP:0008001 | Foveal hyperpigmentation | 2 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | . | | | 13 | | |
HP:0008002 | HP:0500088 | Foveal depigmentation | 3 | CL E G H | | | | | | | | | | |