7042
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Ryanodine receptor 1 |
CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR |
Curated: Anterior segment dysgenesis, Arrhythmogenic right ventricular cardiomyopathy, Arthrogryposis multiplex congenita, Asthma, Centronuclear myopathy, Congenital myopathy, Central core disease, Benign samaritan congenital myopathy, Blepharoptosis, Renal cell carcinoma, Color vision deficiency, Lynch syndrome, Congenital clubfoot, Congenital fiber type disproportion myopathy, Congenital joint contractures, Congenital multicore myopathy with external ophthalmoplegia, Congenital muscular dystrophy, Congenital structural myopathy, Congestive heart failure, Distal arthrogryposis, Gross motor development delay, Heart failure, Hydrops fetalis, Pulmonary hypertension, Intellectual developmental disorder, Long qt syndrome, Lung cancer, Malignant hyperthermia, Myasthenic syndrome, Myopathy, Neuromuscular disease, Osteoporosis, Pena-shokeir syndrome , Sacral agenesis, Scoliosis, Intracranial vasospasm, RYR1-related myopathy
Unreviewed: Acquired Kyphoscoliosis, Akinesia, Alzheimer disease, Amyotrophic lateral sclerosis, Amyotrophy, Anemia, Anxiety Disorder, Arthrogryposis, Atrial fibrillation, Autism, Barber Say Syndrome, Benign Samaritan Congenital Myopathy, Bernard Soulier Syndrome, Blood Coagulation Disorders, Breast neoplasm, Brooke-Spiegler Syndrome, Bulbar palsy, Camptocormia, Cardiac arrhythmias, Cardiomyopathy, Cardiovascular Diseases, Catecholaminergic polymorphic ventricular tachycardia, Central Core Disease, Central core myopathy, Centronuclear Myopathy, Centronuclear Myopathy, X-Linked, Cerebral Infarction, Cerebral Vasospasm, Chromophobe Carcinoma, Cleft palate, Cleidocranial Dysplasia, Colorectal neoplasm, Congenital alveolar dysplasia, Congenital Clubfoot, Congenital contracture, Congenital Epicanthus, Congenital fibrosis of extraocular muscles, Congenital heart defect, Congenital kyphoscoliosis, Congenital Multicore Myopathy With External Ophthalmoplegia, Congenital myopathy with fiber type disproportion, Congenital Myopathy With Myasthenic-Like Onset, CONGENITAL NEUROMUSCULAR DISEASE, Congenital Structural Myopathy, Congestive Heart Failure, Contracture, Crisponi syndrome, Cryptorchidism, Cystic hygroma, Developmental Delay, Developmental dysplasia of the hip, Diaphyseal dysplasia, Disorder Of Skeletal Muscle, Distal Muscular Dystrophy, Distal myopathy, Dolichocephaly, Duchenne Muscular Dystrophy, Dysarthria, Dysmorphic Features, Dysphagia, Edema, Essential tremor, External Ophthalmoplegia, Facial paralysis, Glycogen Storage Disease, Heart Failure, Hemangioma, Cavernous, High palate, Hip Contracture, Hirschsprung Disease, Hydrops Fetalis, Hyperphosphatemia, Hypertension, Hypokalemic Periodic Paralysis, Hypospadias, Hypotonia, Imperforate anus, Infantile spasms, Intracranial hemorrhage, King Denborough Syndrome, Left Ventricular Hypertrophy, Lethal Multiple Pterygium Syndrome, Liver failure, Lung Cancer, Lung carcinoma, Lymphoma, Malignant Neoplasm, Melanoma, Mental Depression, Mental retardation, Microstomia, Minicore myopathy with external ophthalmoplegia, Mitochondrial disease, Mitral Valve Prolapse, Motor delay, Movement disorder, Movement Disorders, Multiminicore Disease, Multiminicore Disease With Hand Involvement, Multiple myeloma, Multiple Pterygium Syndrome, Muscular dystrophy, Myasthenia Gravis, Myositis, Myotonia congenita, Myotonic dystrophy, Native American Myopathy, Necrotizing myopathy, Neurodegenerative disorder, Neurofibromatosis, Neuromuscular Diseases, Obesity, Ophthalmoplegia, Pancreatic neoplasm, Papillary Renal Carcinoma, Paralysis, Pena Shokeir syndrome, Pena-shokeir syndrome, Penis Agenesis, Periodic Paralysis, Peripheral axonal neuropathy, Plagiocephaly, Postnatal asphyxia, Psoriasis, Pterygium, Ptosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Rectus femoris muscle atrophy, Renal Carcinoma, Renal Carnitine Transport Defect, Respiratory Failure, Rhabdomyolysis, Rheumatoid arthritis, Rigid spine muscular dystrophy, Sacral Agenesis, Sacroiliitis, Septicemia, Sick sinus syndrome, Spinal Muscular Atrophy, Status Epilepticus, Sternocleidomastoid amyotrophy, Stomach neoplasms, Stroke, Subarachnoid hemorrhage, Supraventricular tachycardia, Tetralogy of fallot, Thymoma, Transposition of the great arteries, Tremor, Trichohepatoenteric Syndrome, Tubular Aggregate Myopathy, Ventricular arrhythmia, Ventricular tachycardia, Visceral neuropathy
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7043
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Ryanodine receptor 2 |
ARVC2, ARVD2, RYR-2, RyR, VACRDS, VTSIP |
Curated: Cardiac arrhythmia, Arrhythmogenic right ventricular cardiomyopathy, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Brugada syndrome, Cardiac arrest, Cardiomyopathy, Dilated cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia, Central nervous system cancer, Lymphoblastic leukemia, Color vision deficiency, Conduction disorder of the heart, Congenital heart disease, Congestive heart failure, Diabetic cardiomyopathy, Diverticular disease, Eating disorder, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Generalized epilepsy, Glioblastoma, Glioma, Heart disease, Hypotension, Left ventricular disease, Left ventricular noncompaction cardiomyopathy, Long qt syndrome, Mesothelioma, Myocardial ischemia, Obesity, Paroxysmal familial ventricular fibrillation, Polymorphic catecholaminergic ventricular tachycardia, Post-operative stroke, Rhabdomyolysis, Schizophrenia, Scoliosis, Substance abuse, Diabetes mellitus type 2, Ventricular arrhythmia, Ventricular fibrillation, Ventricular hypertrophy, Polymorphic ventricular tachycardia, Wolff-parkinson-white syndrome
Unreviewed: Alzheimer disease, Andersen Syndrome, Asthma, Astrocytoma, Atrial Fibrillation, Autism Spectrum Disorder, Bradycardia, Breast neoplasm, Brugada Syndrome, Calcium metabolism disorders, Carcinoma Of The Head And Neck, Cardiac arrhythmias, Cardiac conduction disease, Cardiac valvular disease, Cardiomegaly, Cardiovascular disease, Cardiovascular Diseases, Central core myopathy, Cleft palate, Cognition disorder, Cognitive disorder, Colorectal neoplasm, Congenital heart defects, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Creutzfeldt-Jakob disease, Crisponi syndrome, Cyclical Vomiting Syndrome, Delirium, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Down Syndrome, Edema, Epilepsy, Esophageal squamous cell carcinoma, Fatal Insomnia, Fatty Liver, Head and neck cancer, Head And Neck Carcinoma, Heart Diseases, Heart Failure, Heart valve disease, Hepatitis b, Hirschsprung Disease, Hypersensitivity, Hypertension, Hypoxia, Impaired Cognition, Imperforate anus, Impulse control disorder, Infantile spasms, Iron overload, Left ventricular noncompaction, Lissencephaly, Liver carcinoma, Long QT Syndrome, Lymphatic Metastasis, Malignant hyperthermia, Malignant Mesothelioma, Melanoma, Mental retardation, Metabolic Syndrome, Migraine, Mucolipidosis, Myasthenia gravis, Myocardial Infarction, Myocardial Ischemia, Myopathy, Myositis, Narcolepsy, Neoplasms, Nephrotic Syndrome, Neuroblastoma, Neurodegenerative disorder, Neurodevelopmental Disorders, Osteoglophonic dwarfism, Paroxysmal atrial fibrillation, Paroxysmal ventricular fibrillation, Primary microcephaly, Respiration Disorders, Respiratory system infectious disease, Seizures, Septicemia, Short QT Syndrome, Sick sinus syndrome, Stomach neoplasms, Stress-Induced Polymorphic Ventricular Tachycardia, Stroke, Subclinical Hypothyroidism, Tetralogy of Fallot, Thrombosis, Thymoma, Thyroid Carcinoma, Torsades de Pointes, Trichohepatoenteric Syndrome, Urinary bladder neoplasms, Ventricular Cardiomyopathy, Ventricular dysfunction, Ventricular ectopy, Ventricular Fibrillation, Ventricular septal defect, Ventricular tachycardia, Xeroderma pigmentosum
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7044
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Ryanodine receptor 3 |
CMYO20, CMYP20, RYR-3 |
Curated: Monomelic amyotrophy, Arthrogryposis multiplex congenita, Breast cancer, Carotid artery disease, Color vision deficiency, Congenital myopathy, Developmental and epileptic encephalopathy, Diabetic neuropathy, Hydrops fetalis, Hypotension, Premature ovarian failure, Parkinson disease, Pena-shokeir syndrome , Schizophrenia, Scoliosis, genetic developmental and epileptic encephalopathy
Unreviewed: Alzheimer disease, Amyotrophic lateral sclerosis, Arteriosclerosis, Arthritis, Arthrogryposis, Atherosclerosis, Autism, Blast crisis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Calcinosis, Cardiovascular disease, Cardiovascular Diseases, Cerebral palsy, Cholangiocarcinoma, Chordoma, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Congenital contractural arachnodactyly, Congenital hyperinsulinism, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Developmental disability, Diabetes, Diabetes Mellitus, Dystonia, Epileptic encephalopathy, Glioma, Heart Failure, Hirschsprung Disease, Hypertension, Imperforate anus, Infantile spasms, Melanoma, Motor neuron disease, Myocardial Infarction, Myopathy, Neurodegenerative disorder, Neuromuscular disease, Neuromuscular Diseases, Non-Hodgkin lymphoma, Obsessive-Compulsive Disorder, Osteoporosis, Pancreatitis, Seizures, Squamous cell carcinoma, Stroke, Urinary bladder neoplasms
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