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:0032166 | HP:0032166 | Unusual gastrointestinal infection | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0032166 | HP:0032168 | Clostridium difficile colitis | 1 | CL E G H | | | | | | | | | | |
HP:0032166 | HP:0032167 | Clostridium difficile enteritis | 1 | CL E G H | | | | | | | | | | |