TaoMedAI/RareMedData huggingface dataset:
Gene: CALR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Portal hypertension (HP:0001409)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Malabsorption (HP:0002024)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Migraine (HP:0002076)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Esophageal varix (HP:0002040)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Anorexia (HP:0002039)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: CALR
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Paresthesia (HP:0003401)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: CALR
Phenotype: Insomnia (HP:0100785)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Chest pain (HP:0100749)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: CALR
Phenotype: Hemangioma (HP:0001028)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Vertigo (HP:0002321)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Headache (HP:0002315)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Cholecystitis (HP:0001082)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Increased megakaryocyte count (HP:0005513)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
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: CALR
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Fever (HP:0001945)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Fever (HP:0001945)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Fever (HP:0001945)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Anemia (HP:0001903)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Cachexia (HP:0004326)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Hematological neoplasm (HP:0004377)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Pallor (HP:0000980)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Pallor (HP:0000980)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Purpura (HP:0000979)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Purpura (HP:0000979)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Jaundice (HP:0000952)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Petechiae (HP:0000967)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Bipedal edema (HP:0033045)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Ascites (HP:0001541)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Ecchymosis (HP:0031364)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Fatigue (HP:0012378)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Fatigue (HP:0012378)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Gastrointestinal infarctions (HP:0005244)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Flank pain (HP:0030157)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Low-grade fever (HP:0011134)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: CALR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MYELOFIBROSIS (OMIM:254450)
Gene: CALR
Phenotype: Weight loss (HP:0001824)
Associated disease: BCS; Budd-Chiari syndrome (ORPHA:131)
Gene: CALR
Phenotype: Visual impairment (HP:0000505)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: CALR
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: ET; Essential thrombocythemia; Essential thrombocytosis (ORPHA:3318)
Gene: CALR
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: CALR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CALR
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Osteomyelofibrosis; Primary myelofibrosis; Myelofibrosis with myeloid metaplasia (ORPHA:824)
Gene: CAMK2A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Microtia (HP:0008551)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Blue nevus (HP:0100814)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Irritability (HP:0000737)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Short femur (HP:0003097)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Overgrowth (HP:0001548)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Genu valgum (HP:0002857)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Gene: CAMK2A
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Gene: CAMK2B
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Fetal distress (HP:0025116)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Poor head control (HP:0002421)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Urinary retention (HP:0000016)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Food allergy (HP:0500093)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)