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:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 39 | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | | | | 141 | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | | | | 262 | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | | | | 4 | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | | | | 6 | | |
HP:0030493 | HP:0030493 | Abnormality of foveal pigmentation | 0 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | | | | 13 | | |
HP:0030493 | HP:0012643 | Foveal hypopigmentation | 1 | APOE CL E G H | 348 | 613 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | 39 | | |
HP:0030493 | HP:0012643 | Foveal hypopigmentation | 1 | CFHR1 CL E G H | 3078 | 4888 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | | | |
HP:0030493 | HP:0012643 | Foveal hypopigmentation | 1 | CFHR3 CL E G H | 10878 | 16980 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | | | |
HP:0030493 | HP:0008001 | Foveal hyperpigmentation | 1 | CTNNA1 CL E G H | 1495 | 2509 | OMIM:608970 | Macular dystrophy, patterned, 2 | . | | | 141 | | |
HP:0030493 | HP:0012643 | Foveal hypopigmentation | 1 | HMCN1 CL E G H | 83872 | 19194 | OMIM:603075 | Macular degeneration, age-related, 1 | . | | | 262 | | |
HP:0030493 | HP:0008001 | Foveal hyperpigmentation | 1 | IMPG1 CL E G H | 3617 | 6055 | OMIM:153870 | Macular dystrophy, concentric annular | . | | | 4 | | |
HP:0030493 | HP:0008001 | Foveal hyperpigmentation | 1 | RAB28 CL E G H | 9364 | 9768 | OMIM:615374 | Cone-Rod dystrophy 18 | . | | | 6 | | |
HP:0030493 | HP:0008001 | Foveal hyperpigmentation | 1 | SLC38A8 CL E G H | 146167 | 32434 | OMIM:609218 | Foveal hypoplasia 2 | . | | | 13 | | |
HP:0030493 | HP:0500088 | Foveal depigmentation | 2 | CL E G H | | | | | | | | | | |