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:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | | | | 13 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | 3 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0000849 | HP:0000849 | Adrenocortical abnormality | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0000849 | HP:0008182 | Adrenocortical hypoplasia | 1 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040280 - Obligate | | | 13 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040280 - Obligate | | | 134 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0000849 | HP:0001580 | Pigmented micronodular adrenocortical disease | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | HP:0040281 - Very frequent | | | 134 | | |