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:0031248 | HP:0031248 | Palmar pruritus | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 146 | | |
HP:0031248 | HP:0031248 | Palmar pruritus | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 111 | | |
HP:0031248 | HP:0031248 | Palmar pruritus | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 144 | | |
HP:0031248 | HP:0031248 | Palmar pruritus | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | HP:0040282 - Frequent | | | 1371 | | |
HP:0031248 | HP:0031248 | Palmar pruritus | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040283 - Occasional | | | 14 | | |