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:0011974 | HP:0011974 | Myelofibrosis | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 1 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | CALR CL E G H | 811 | 1455 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 1 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | GFI1B CL E G H | 8328 | 4238 | OMIM:187900 | Bleeding disorder, platelet-type, 17 | . | | | 3 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 57 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 57 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | MPIG6B CL E G H | 80739 | 13937 | OMIM:617441 | Thrombocytopenia, anemia, and myelofibrosis | . | | | 1 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 97 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | MPL CL E G H | 4352 | 7217 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 97 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | NBEAL2 CL E G H | 23218 | 31928 | OMIM:139090 | Gray platelet syndrome | . | | | 127 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:254450 | Myelofibrosismyelofibrosis with myeloid metaplasia, included | | | | 4 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | SRC CL E G H | 6714 | 11283 | OMIM:616937 | Thrombocytopenia 6 | | | | 15 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | . | | | 16 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011974 | HP:0011974 | Myelofibrosis | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 911 | | |