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:0100792 | HP:0100792 | Acantholysis | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | . | | | 86 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | ATP2C1 CL E G H | 27032 | 13211 | ORPHA:2841 | Familial benign chronic pemphigus | HP:0040281 - Very frequent | | | 56 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:609638 | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA | | | | 747 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 747 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:158687 | Lethal acantholytic erosive disorder | HP:0040282 - Frequent | | | 222 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0100792 | HP:0100792 | Acantholysis | 0 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 67 | | |