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:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | ABL1 CL E G H | 25 | 76 | ORPHA:521 | Chronic myeloid leukemia | HP:0040280 - Obligate | | | 51 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | BCR CL E G H | 613 | 1014 | ORPHA:521 | Chronic myeloid leukemia | HP:0040280 - Obligate | | | 5 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:190685 | Down syndrometrisomy 21, included | . | | | 29 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:3226 | Deafness-lymphedema-leukemia syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | . | | | 28 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:521 | Chronic myeloid leukemia | HP:0040280 - Obligate | | | 181 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0005547 | HP:0005547 | Myeloproliferative disorder | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0005547 | HP:0005534 | Transient myeloproliferative syndrome | 1 | CL E G H | | | | | | | | | | |