TaoMedAI/RareMedData huggingface dataset:
Gene: ITPR2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)
Gene: ITPR2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)
Gene: ITPR3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: ITPR3
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Gene: IVD
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Elevated urinary isovalerylglycine level (HP:6000602)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Motor delay (HP:0001270)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Confusion (HP:0001289)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Lethargy (HP:0001254)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Lethargy (HP:0001254)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Seizure (HP:0001250)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Seizure (HP:0001250)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Coma (HP:0001259)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Coma (HP:0001259)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Tremor (HP:0001337)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Dysmetria (HP:0001310)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Vomiting (HP:0002013)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Vomiting (HP:0002013)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Hypothermia (HP:0002045)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: 3-hydroxyisovaleric aciduria (HP:0033111)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Elevated circulating isovalerylcarnitine concentration (HP:0033447)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Sweaty foot-like odor (HP:6001063)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Dehydration (HP:0001944)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Elevated serum anion gap (HP:0031962)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts (HP:4000210)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Ketonuria (HP:0002919)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Weight loss (HP:0001824)
Associated disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Gene: IVD
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: IVD
Phenotype: Pancytopenia (HP:0001876)
Associated disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Gene: JAG2
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Progressive (HP:0003676)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Young adult onset (HP:0011462)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAG2
Phenotype: Ptosis (HP:0000508)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27 (OMIM:619566)
Gene: JAK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Food allergy (HP:0500093)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Asthma (HP:0002099)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Eosinophilic liver infiltration (HP:0032021)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Colonic eosinophilia (HP:0031813)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Short stature (HP:0004322)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Membranous nephropathy (HP:0012578)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA (OMIM:618999)
Gene: JAK2
Phenotype: Constitutional symptom (HP:0025142)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Sporadic (HP:0003745)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Stroke (HP:0001297)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Peritonitis (HP:0002586)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Seizure (HP:0001250)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Gene: JAK2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Gene: JAK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Gene: JAK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: JAK2
Phenotype: Peripheral thrombosis (HP:0002641)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Gene: JAK2
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Gene: JAK2
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Abnormal megakaryocyte morphology (HP:0012143)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Early satiety (HP:0033842)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: JAK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Gene: JAK2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Gene: JAK2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Malabsorption (HP:0002024)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: JAK2
Phenotype: Anorexia (HP:0002039)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: JAK2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Gene: JAK2
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: JAK2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Polycythemia rubra vera; Polycythemia vera; PV; Vaquez disease; Acquired primary erythrocytosis; Osler-Vaquez disease (ORPHA:729)
Gene: JAK2
Phenotype: Paresthesia (HP:0003401)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: JAK2
Phenotype: Middle age onset (HP:0003596)
Associated disease: POLYCYTHEMIA VERA (OMIM:263300)
Gene: JAK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: JAK2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)