Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158676 | Localized dystrophic epidermolysis bullosa, nails only | HP:0040282 - Frequent | | | 263 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 23 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 41 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040282 - Frequent | | | 4 | | |
HP:0040036 | HP:0040036 | Onychogryposis of fingernail | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |