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:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040282 - Frequent | | | 62 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040282 - Frequent | | | 72 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040281 - Very frequent | | | 29 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176200 | Porphyria variegata | | | | 38 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040281 - Very frequent | | | 81 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040281 - Very frequent | | | 41 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | PPOX CL E G H | 5498 | 9280 | OMIM:176200 | Porphyria variegata | | | | 41 | | |
HP:0012217 | HP:0012217 | Increased urinary porphobilinogen | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040281 - Very frequent | | | 41 | | |