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:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0012150 | HP:0012150 | Single lineage myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0012150 | HP:0004828 | Refractory anemia with ringed sideroblasts | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0012150 | HP:0004828 | Refractory anemia with ringed sideroblasts | 1 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0012150 | HP:0004828 | Refractory anemia with ringed sideroblasts | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0012150 | HP:0004828 | Refractory anemia with ringed sideroblasts | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040281 - Very frequent | | | 19 | | |
HP:0012150 | HP:0004828 | Refractory anemia with ringed sideroblasts | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040281 - Very frequent | | | 3 | | |