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:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 150 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 51 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | FERMT3 CL E G H | 83706 | 23151 | OMIM:612840 | Leukocyte adhesion deficiency, type III | | | | 23 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040282 - Frequent | | | 580 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0001978 | HP:0001978 | Extramedullary hematopoiesis | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |