TaoMedAI/RareMedData huggingface dataset:
Gene: JAK2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Late onset (HP:0003584)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Adult onset (HP:0003581)
Associated disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Gene: JAK2
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Insomnia (HP:0100785)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Chest pain (HP:0100749)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: JAK2
Phenotype: Plethora (HP:0001050)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Hemangioma (HP:0001028)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Vertigo (HP:0002321)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Vertigo (HP:0002321)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Vertigo (HP:0002321)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Headache (HP:0002315)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Headache (HP:0002315)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Headache (HP:0002315)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Headache (HP:0002315)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Cholecystitis (HP:0001082)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Chronic myelogenous leukemia (HP:0005506)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Fever (HP:0001945)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Fever (HP:0001945)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Fever (HP:0001945)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Anemia (HP:0001903)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Polycythemia (HP:0001901)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Cachexia (HP:0004326)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Hypertension (HP:0000822)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Hypertension (HP:0000822)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Pallor (HP:0000980)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Pallor (HP:0000980)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Purpura (HP:0000979)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Purpura (HP:0000979)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Pruritus (HP:0000989)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Pruritus (HP:0000989)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Jaundice (HP:0000952)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Petechiae (HP:0000967)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Bipedal edema (HP:0033045)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Increased micromegakaryocyte count (HP:0031386)
Associated disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Gene: JAK2
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Ascites (HP:0001541)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Fatigue (HP:0012378)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Fatigue (HP:0012378)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Fatigue (HP:0012378)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Fatigue (HP:0012378)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Tinnitus (HP:0000360)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Flank pain (HP:0030157)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Epistaxis (HP:0000421)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Weight loss (HP:0001824)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Weight loss (HP:0001824)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Visual impairment (HP:0000505)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Increased red blood cell mass (HP:0001898)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK3
Phenotype: Absent peripheral lymph nodes in presence of infection (HP:0033581)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Meningitis (HP:0001287)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)
Gene: JAK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE (OMIM:600802)
Gene: JAK3
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: T-B+ severe combined immunodeficiency due to JAK3 deficiency; T-B+ SCID due to JAK3 deficiency (ORPHA:35078)