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:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 100 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 45 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 237 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 129 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0100780 | HP:0100780 | Conjunctival hamartoma | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |