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:0200044 | HP:0200044 | Porokeratosis | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | FDPS CL E G H | 2224 | 3631 | ORPHA:79152 | Disseminated superficial actinic porokeratosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | FDPS CL E G H | 2224 | 3631 | OMIM:616631 | Porokeratosis 9, multiple types | . | | | 4 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | MVD CL E G H | 4597 | 7529 | ORPHA:79152 | Disseminated superficial actinic porokeratosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | MVD CL E G H | 4597 | 7529 | OMIM:614714 | POROKERATOSIS 7, MULTIPLE TYPES; POROK7 | | | | 2 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:79152 | Disseminated superficial actinic porokeratosis | HP:0040281 - Very frequent | | | 150 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | MVK CL E G H | 4598 | 7530 | OMIM:175900 | Porokeratosis 3, multiple types | . | | | 150 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:735 | Porokeratosis of Mibelli | HP:0040281 - Very frequent | | | 150 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | PMVK CL E G H | 10654 | 9141 | OMIM:175800 | Porokeratosis 1, multiple types | . | | | 3 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | PMVK CL E G H | 10654 | 9141 | ORPHA:735 | Porokeratosis of Mibelli | HP:0040281 - Very frequent | | | 3 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040284 - Very rare | | | 445 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | SLC17A9 CL E G H | 63910 | 16192 | ORPHA:79152 | Disseminated superficial actinic porokeratosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0200044 | HP:0200044 | Porokeratosis | 0 | SLC17A9 CL E G H | 63910 | 16192 | OMIM:616063 | Porokeratosis 8, disseminated superficial Actinic type | . | | | 3 | | |