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:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040280 - Obligate | | | 13 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040280 - Obligate | | | 134 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0001580 | HP:0001580 | Pigmented micronodular adrenocortical disease | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 134 | | |