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:0001818 | HP:0001818 | Paronychia | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | | | | 3 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 23 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 41 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 4 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 116 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 167 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040282 - Frequent | | | 135 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0001818 | HP:0001818 | Paronychia | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |