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:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | | | | 94 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0007661 | HP:0007661 | Abnormality of chorioretinal pigmentation | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0007661 | HP:0040031 | Chorioretinal hyperpigmentation | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0007661 | HP:0040031 | Chorioretinal hyperpigmentation | 1 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040282 - Frequent | | | 94 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0007661 | HP:0040030 | Chorioretinal hypopigmentation | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |