Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001818 | HP:0001818 | Paronychia | 0 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 329 | 195 | 603639 |
HP:0001818 | HP:0001818 | Paronychia | 0 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 263 | 195 | 603639 |
HP:0001818 | HP:0001818 | Paronychia | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1735 | 888 | 601255 |
HP:0001818 | HP:0001818 | Paronychia | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1441 | 888 | 601255 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 815 | 6483 | 600805 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMA3 CL E G H | 3909 | 79404 | | | | ORPHA | 1 | | 855 | 6483 | 600805 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 664 | 6490 | 150310 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMB3 CL E G H | 3914 | 79404 | | | | ORPHA | 1 | | 622 | 6490 | 150310 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 548 | 6493 | 150292 |
HP:0001818 | HP:0001818 | Paronychia | 0 | LAMC2 CL E G H | 3918 | 79404 | | | | ORPHA | 1 | | 579 | 6493 | 150292 |
HP:0001818 | HP:0001818 | Paronychia | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 368 | 25964 | 613114 |
HP:0001818 | HP:0001818 | Paronychia | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 416 | 25964 | 613114 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1708 | 10597 | 603415 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1438 | 10597 | 603415 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 449 | 17129 | 607059 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 486 | 17129 | 607059 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 449 | 17129 | 607059 |
HP:0001818 | HP:0001818 | Paronychia | 0 | SLC39A4 CL E G H | 55630 | 201100 | Hereditary acrodermatitis enteropathica | 201100 | C0221036 | OMIM | 1 | | 486 | 17129 | 607059 |
HP:0001818 | HP:0001818 | Paronychia | 0 | STAT3 CL E G H | 6774 | 2314 | | | | ORPHA | 1 | | 439 | 11364 | 102582 |
HP:0001818 | HP:0001818 | Paronychia | 0 | STAT3 CL E G H | 6774 | 2314 | | | | ORPHA | 1 | | 399 | 11364 | 102582 |
HP:0001818 | HP:0001818 | Paronychia | 0 | WNK1 CL E G H | 65125 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1096 | 14540 | 605232 |
HP:0001818 | HP:0001818 | Paronychia | 0 | WNK1 CL E G H | 65125 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1258 | 14540 | 605232 |
HPO disease - gene - phenotype less frequent non-typical associations: |