TaoMedAI/RareMedData huggingface dataset:
Gene: CASP10
Phenotype: Hypersplenism (HP:0001971)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Thyroid adenoma (HP:0000854)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal T cell apoptosis (HP:0030886)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Elevated circulating vitamin B12 concentration (HP:6000016)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Elevated circulating soluble FASL concentration (HP:6000017)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Anti-smooth muscle antibody positivity (HP:0003262)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Petechiae (HP:0000967)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal CD4+ T cell subset proportion (HP:0031392)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal CD8+ T cell proportion (HP:0031393)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Burkitt lymphoma (HP:0030080)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased HLA DR+ CD4+ T cell proportion (HP:0002853)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Elevated double-negative T cell proportion (HP:0002851)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Elevated double-negative T cell proportion (HP:0002851)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Decreased specific anti-polysaccharide antibody level (HP:0002848)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Gastritis (HP:0005263)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Autoimmunity (HP:0002960)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Reduced delayed hypersensitivity (HP:0002972)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Panniculitis (HP:0012490)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Uveitis (HP:0000554)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Non-Hodgkin lymphoma (HP:0012539)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: ALPS; Canale-Smith syndrome; Autoimmune lymphoproliferative syndrome (ORPHA:3261)
Gene: CASP10
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASP10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Gene: CASQ1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Muscle fiber calsequestrin 1-containing inclusion bodies (HP:0034940)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Myalgia (HP:0003326)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Myopathy (HP:0003198)
Associated disease: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates; Vacuolar aggregate myopathy; Myopathy due to calsequestrin and SERCA1 protein overload (ORPHA:88635)
Gene: CASQ1
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES (OMIM:616231)
Gene: CASQ1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates; Vacuolar aggregate myopathy; Myopathy due to calsequestrin and SERCA1 protein overload (ORPHA:88635)
Gene: CASQ1
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Tubular aggregate myopathy (ORPHA:2593)
Gene: CASQ2
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Syncope (HP:0001279)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Seizure (HP:0001250)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Seizure (HP:0001250)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Atrial standstill (HP:0025478)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Effort-induced polymorphic ventricular tachycardia (HP:0004758)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Vertigo (HP:0002321)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Ventricular couplet (HP:0034039)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Bidirectional ventricular tachycardia (HP:0034040)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Palpitations (HP:0001962)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Young adult onset (HP:0011462)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Sudden death (HP:0001699)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Bradycardia (HP:0001662)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASQ2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: CASQ2
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY (OMIM:604772)
Gene: CASQ2
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: CASQ2
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2 (OMIM:611938)
Gene: CASR
Phenotype: Calcinosis (HP:0003761)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: CASR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: AD hypocalcemia; Autosomal dominant hypocalcemia (ORPHA:428)
Gene: CASR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CASR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CASR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Gene: CASR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Gene: CASR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Gene: CASR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)