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:0007441 | HP:0007441 | Hyperpigmented/hypopigmented macules | 0 | ADAR CL E G H | 103 | 225 | OMIM:127400 | Dyschromatosis symmetrica hereditaria 1 | . | | | 116 | | |
HP:0007441 | HP:0007441 | Hyperpigmented/hypopigmented macules | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0007441 | HP:0007441 | Hyperpigmented/hypopigmented macules | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0007441 | HP:0007441 | Hyperpigmented/hypopigmented macules | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:127500 | Dyschromatosis universalis hereditaria | . | | | 1 | | |
HP:0007441 | HP:0007494 | Discrete 2 to 5-mm hyper- and hypopigmented macules | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |