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:0200143 | HP:0200143 | Megaloblastic erythroid hyperplasia | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0200143 | HP:0200143 | Megaloblastic erythroid hyperplasia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 19 | | |
HP:0200143 | HP:0200143 | Megaloblastic erythroid hyperplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040282 - Frequent | | | 3 | | |