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:0001901 | HP:0001901 | Polycythemia | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | . | | | 2 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 1 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 1 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | CYB5R3 CL E G H | 1727 | 2873 | OMIM:250800 | Methemoglobinemia due to deficiency of methemoglobin reductase | . | | | 24 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | EDNRB CL E G H | 1910 | 3180 | OMIM:600501 | Abcd syndrome | | | | 55 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | | | | 128 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | . | | | 1 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | EPOR CL E G H | 2057 | 3416 | ORPHA:90042 | Primary familial polycythemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | | | | 29 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | HBA1 CL E G H | 3039 | 4823 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 200 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | HBA2 CL E G H | 3040 | 4824 | OMIM:617981 | ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 | | | | 88 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 57 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | | | | 57 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 3 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 36 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:102900 | Adenosine triphosphate, elevated, of erythrocytes | . | | | 51 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | | | | 4 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040284 - Very rare | | | 109 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | | | | 490 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 490 | | |
HP:0001901 | HP:0001901 | Polycythemia | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | . | | | 490 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | BPGM CL E G H | 669 | 1093 | OMIM:222800 | Erythrocytosis, familial, 8 | | | | 2 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | . | | | 128 | | |
HP:0001901 | HP:0001898 | Increased red blood cell mass | 1 | EGLN1 CL E G H | 54583 | 1232 | OMIM:609820 | Erythrocytosis, familial, 3 | . | | | 128 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | EPAS1 CL E G H | 2034 | 3374 | OMIM:611783 | ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4 | | | | 112 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | EPO CL E G H | 2056 | 3415 | OMIM:617907 | Erythrocytosis, familial, 5 | . | | | 1 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | HBB CL E G H | 3043 | 4827 | OMIM:617980 | ERYTHROCYTOSIS, FAMILIAL, 6; ECYT6 | | | | 580 | | |
HP:0001901 | HP:0001898 | Increased red blood cell mass | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 57 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0001901 | HP:0001898 | Increased red blood cell mass | 1 | JAK2 CL E G H | 3717 | 6192 | OMIM:263300 | Polycythemia vera | . | | | 57 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0001901 | HP:0001898 | Increased red blood cell mass | 1 | SH2B3 CL E G H | 10019 | 29605 | OMIM:133100 | Erythrocytosis, familial, 1 | . | | | 4 | | |
HP:0001901 | HP:0001900 | Increased hemoglobin | 1 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |
HP:0001901 | HP:0001898 | Increased red blood cell mass | 1 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | . | | | 490 | | |