714
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Dystrophin |
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85 |
Curated: Alzheimer disease, Arrhythmogenic right ventricular cardiomyopathy, Ataxia, Atrial septal defect, Autism, Becker muscular dystrophy, Benign congenital myopathy, Bipolar disorder, Blepharoptosis, Breast cancer, Calcinosis, Cardiomegaly, Cardiomyopathy, Dilated cardiomyopathy, Clinodactyly, Conduction disorder of the heart, Delirium, dementia, and cognitive disorders, Duchenne muscular dystrophy, Dystrophinopathy, Restrictive cardiomyopathy, Female infertility, Gastrointestinal stromal tumor, Hypertrophic cardiomyopathy, Intellectual developmental disorder, Left ventricular noncompaction cardiomyopathy, Leiomyosarcoma, Major depressive disorder, Ovarian epithelial cancer, Intellectual developmental disorder, x-linked, Migraine, Muscular dystrophy, Myopathy, Necrosis, X-linked intellectual disability, Ovarian cancer, Periodontitis, Polycystic ovary syndrome, Rhabdomyosarcoma, Schizophrenia, Hearing loss, Status epilepticus, Diabetes mellitus type 2, Ventricular dysfunction, Vesicoureteral reflux, progressive muscular dystrophy
Unreviewed: Adrenal Hypoplasia, X-Linked, Adrenoleukodystrophy, Age-related macular degeneration, Alopecia, Amyotrophic Lateral Sclerosis, Androgen-Insensitivity Syndrome, Anemia, Ankylosing Spondylitis, Anorexia, Aortic Valve Sclerosis, Aplasia Of Muscle, Arteriosclerosis, Arthritis, Asthma, Atherosclerosis, Atrial Fibrillation, Atrial flutter, Atrial Septal Defect, Atrial standstill, Atrioventricular block, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Barth syndrome, Becker Muscular Dystrophy, Bethlem Myopathy, Bone Disease, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast Hyperplasia, Bronchopulmonary Dysplasia, Campomelic Dysplasia, Camptodactyly of fingers, Carbamoyl Phosphate Synthase Deficiency, Cardiac arrhythmias, Cardiovascular Diseases, Celiac disease, Cerebral Atrophy, Cerebral cortical atrophy, Cerebral palsy, Cholestatic liver disease, Chronic Obstructive Pulmonary Disease, Coffin-Lowry Syndrome, Cognition disorder, Cognitive disorder, Coloboma, Color vision deficiency, Colorectal Cancer, Colorectal neoplasm, Conduction Disorder Of The Heart, Congenital adrenal hyperplasia, Congenital adrenal hypoplasia, Congenital Cataract, Congenital Chromosomal Disease, Congenital Ichthyosis, Congenital muscular dystrophy, Congenital myopathy, Congenital Pectus Excavatum, Congestive Heart Failure, Corneal Neovascularization, Coronary Arteriosclerosis, Craniometaphyseal Dysplasia, Crohn Disease, Cushing`s Syndrome, Cystic Fibrosis, Deficiency Of Glycerol Kinase, Demyelinating neuropathy, Dermatomyositis, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Dilated Cardiomyopathy, Disorder Of Skeletal Muscle, Distal Muscular Dystrophy, Distal myopathy, Down Syndrome, Duchenne And Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Dwarfism, Dysferlinopathy, Dysphagia, Dystonia, Eating Disorders, Eichsfeld type congenital muscular dystrophy, Embryonal Rhabdomyosarcoma, Emery dreifuss muscular dystrophy, Endocrine System Diseases, Epidermolysis Bullosa, Epilepsy, Erythroblastic Leukemia, Facial paralysis, Facioscapulohumeral Muscular Dystrophy, Fibrous Meningioma, Fukuyama Type Congenital Muscular Dystrophy, Galactosemia, Gastrointestinal Neoplasms, Gitelman Syndrome, Gonadal Dysgenesis, Grand Mal Status Epilepticus, Granulomatous Disease, Graves Disease, Hearing Loss, Heart disease, Heart Diseases, Heart Failure, Hemophilia, Hepatolenticular Degeneration, Hereditary pyropoikilocytosis, Huntington Disease, Hypercalcemia, Hypercalciuria, Hyperglycemia, Hyperparathyroidism, Hypertension, Hyperthyroidism, Hypertrophy, Hypospadias, Ichthyosis, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Bowel Disease, Intervertebral Disc Degeneration, Irritable Bowel Syndrome, Ischemic myocardial dysfunction, Isodicentric Chromosome 15 Syndrome, Junctional epidermolysis bullosa, Ketosis, Kidney Disease, Kidney Failure, Kidney stone, Language development disorders, Lateral Meningocele Syndrome, Learning Disorders, Left Ventricular Hypertrophy, Left ventricular noncompaction, Leiomyoma, Limb-Girdle Muscular Dystrophy, Limb-Mammary Syndrome, Lipoatrophy, Lipodystrophy, Lipoma, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lymphoblastic Leukemia, Lymphocytic Leukemia, Macrocephaly, Major Affective Disorder, Malformation of cortical development, Malignant Neoplasm, Malnutrition, McLeod neuroacanthocytosis syndrome, Meckel Diverticulum, Melanoma, Meningioma, Mental Depression, Mental Disorders, Mental retardation, Mental Retardation, X-Linked, Metabolic Bone Disorder, Metabolic Myopathy, Metabolic Syndrome, Microcephaly, Mood Disorder, Motor delay, Multiple myeloma, Multiple Trichoepithelioma, Myocardial Diseases, Myocardial Infarction, Myocardial Ischemia, Myocarditis, Myofibrillar myopathy, Myopathy With Abnormal Lipid Metabolism, Myositis, Myotonia congenita, Myotonic dystrophy, Nasopharyngeal carcinoma, Neoplasms, Nephrogenic Diabetes Insipidus, Nephrolithiasis, Nephrotic syndrome, Nervous system disease, Neurilemmoma, Neuroblastoma, Neurodevelopmental Disorders, Neuromuscular disease, Neuromuscular Diseases, Neurosensory Hearing impairment, Night blindness, Night blindness, congenital stationary, Non-Alcoholic Fatty Liver Disease, Non-Syndromic Intellectual Disability, X-Linked, Nonconvulsive status epilepticus, Obesity, Ocular albinism, Ornithine Carbamoyltransferase Deficiency, Osteogenesis Imperfecta, Osteopenia, Osteoporosis, Osteosarcoma, Osteosclerosis, Ovarian Epithelial carcinoma, Paget disease, Palmoplantar keratoderma, Pancreatic cancer, Pancreatic carcinoma, Parkinson Disease, Petit Mal Status, Phenylketonuria, Placental Steroid Sulfatase Deficiency, Polycystic Ovary Syndrome, Polymyositis, Prader-Willi Syndrome, Precocious puberty, Proptosis, Prostate cancer, Pseudoachondroplasia, Ptosis, Respiratory Failure, Retinitis pigmentosa, Retinitis Pigmentosa, X-Linked, Retinoschisis, Retinoschisis, X-Linked, Rhabdomyolysis, Rheumatoid arthritis, Sarcoglycanopathy, Sarcoma, Sclerocystic Ovaries, Scoliosis, Seizure, Severe combined immunodeficiency disease, Skin Erosion, Sleep Apnea, Specific Learning Disorder, Spinal Muscular Atrophy, Status Epilepticus, Steroid Sulfatase Deficiency Disease, Stroke, Subclinical Hypothyroidism, Syndactyly Of The Toes, Temporomandibular Joint Disorders, Tetralogy of Fallot, Thyroid Diseases, Thyroid Hormone Resistance, Tumoral Calcinosis, Turner Syndrome, Ulcerative colitis, Ullrich Congenital Muscular Dystrophy, Urinary bladder neoplasms, Uruguay faciocardio-musculoskeletal syndrome, Vacuolar myopathy, Vascular Diseases, Ventricular Systolic Dysfunction, Ventricular tachycardia, Vitamin D Deficiency, Vitelliform Macular Dystrophy
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720
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DM1 protein kinase |
DM, DM1, DM1PK, DMK, MDPK, MT-PK |
Curated: Bethlem myopathy, Myotonic dystrophy, Congenital-onset steinert myotonic dystrophy, Noonan syndrome, Catecholaminergic polymorphic ventricular tachycardia
Unreviewed: Adrenoleukodystrophy, Adrenomyeloneuropathy, Atrial Septal Defect, Atrioventricular block, Autism, Azoospermia, Basal Cell Neoplasm, Bulbospinal Atrophy, X-Linked, Cardiac arrhythmias, Cardiac Defects, Cardiomyopathy, Cataract, Centronuclear Myopathy, Cerebral Atrophy, Charcot-Marie-Tooth Disease, Cholelithiasis, Chronic obstructive pulmonary disease, Conduction Disorder Of The Heart, Congenital heart septal defect, Congenital myopathy with fiber type disproportion, Congenital myotonia, Congenital Myotonic Dystrophy, Congestive Heart Failure, Coronary artery disease, Cryptorchidism, Diabetes Mellitus, Dilated cardiomyopathy, Disorder Of Skeletal Muscle, Dysphagia, Dystonia, Ehlers-Danlos Syndrome, Facial paralysis, Fuchs Endothelial Dystrophy, Glomerulosclerosis, Hearing loss, Heart disease, Heart Failure, Hernia Of Abdominal Wall, Hydrocephalus, Hyperparathyroidism, Hypertrophic cardiomyopathy, Hypogonadism, Lung carcinoma, Machado-Joseph Disease, Major Affective Disorder, Malignant Neoplasm, Mental retardation, Mitochondrial Diseases, Muscular dystrophy, Myocardial infarction, Myopathy, Myotonia, Myotonia Congenita, Myotonic Disorders, Neoplasms, Neurodegenerative Disorders, Neuromuscular disease, Neuromuscular Diseases, Optic Atrophy, Parkinson disease, Presenile Cataract, Rhabdomyosarcoma, Sick sinus syndrome, Steinert Myotonic Dystrophy, Strabismus, Testicular atrophy, Ventricular Fibrillation
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