Genes?

Curated: Myotonia, Arthrogryposis multiplex congenita, Congenital myasthenic syndrome, Congenital myopathy, Hyperkalemic periodic paralysis, Gross motor development delay, Long qt syndrome, Male reproductive organ cancer, Myasthenic syndrome, Myopathy, Neuromuscular disease, Paralysis, Paramyotonia congenita, Pena-shokeir syndrome , Postsynaptic congenital myasthenic syndrome, Potassium-aggravated myotonia, Seizures, Sotos syndrome, Tremor, SCN4A-related myopathy, autosomal recessive

Unreviewed: Adrenocortical adenoma, Aggressive Periodontitis, Andersen-tawil syndrome, Apnea, Asthma, Atrial Septal Defect, Blepharospasm, Bowel incontinence, Brugada Syndrome, Cardiac arrhythmias, Cerebral palsy, Conduct disorder, Congenital abnormalities, Congenital adrenal hyperplasia, Congenital Epicanthus, Congenital myotonia, Congestive Heart Failure, Contracture, Craniosynostosis, Deafness, Deglutition disorder, Developmental delay, Double outlet right ventricle, Dwarfism, Dyskeratosis congenita, Dysphagia, Dystonia, Ear disease, Epilepsy, Epileptic encephalopathy, External Ophthalmoplegia, Eyelid disease, Facial paralysis, Fatigue syndrome, Generalized epilepsy with febrile seizures plus, Heart disease, Hepatocellular carcinoma, Hereditary pyropoikilocytosis, High palate, Huntington Disease, Hyperkalemic Periodic Paralysis, Hypoalphalipoproteinemia, Hypocalcemia, Hypokalemic Periodic Paralysis, Hypothyroidism, Hypotonia, Laryngospasm, Leukemia, Lipoma, Lung disease, Malignant hyperthermia, Melanoma, Membranous glomerulonephritis, Mental retardation, Miller Dieker Syndrome, Motor delay, Myasthenia Gravis, Myasthenic Syndrome, Myelodysplastic Syndrome, Myelomonocytic Leukemia, Myoclonic epilepsy, Myotonia Congenita, Myotonia Fluctuans, Myotonia Levior, Myotonia Permanens, Myotonic Disorders, Myotonic dystrophy, Nervous System Diseases, Neuromuscular Diseases, Normokalemic Periodic Paralysis, Nystagmus, Osteochondrodysplasias, Paradoxical myotonia, Paramyotonia Congenita, Paramyotonia Congenita Of Von Eulenburg, Paramyotonia Congenita Without Cold Paralysis, Paramyotonia Congenita/Myotonia Congenita, Parietal Foramina, Periodic hypokalemic paresis, Periodic Paralysis, Peripheral nervous system disease, Peripheral Neuropathy, Polymyositis, Ptosis, Respiratory Failure, Respiratory system infectious disease, Rhabdomyolysis, Schizophrenia, Squamous cell carcinoma, Strabismus, Thyroid Gland Follicular Adenoma, Thyrotoxic Periodic Paralysis, Trichohepatoenteric Syndrome, Triple negative breast cancer, Ventricular Fibrillation, Ventricular septal defect, Ventricular tachycardia

Curated: Dilated cardiomyopathy, Atrial fibrillation, Long qt syndrome, Hereditary atrial fibrillation, Preeclampsia, Catecholaminergic polymorphic ventricular tachycardia

Unreviewed: Atrial Fibrillation, Atrioventricular block, Bipolar disorder, Borderline personality disorder, Breast Cancer, Breast Carcinoma, Bronchopulmonary Dysplasia, Brugada Syndrome, Congenital Long QT Syndrome, Dysautonomia, Gallbladder neoplasm, Long QT Syndrome, Malignant Neoplasm, Papillary thyroid cancer, Papillary thyroid carcinoma, Periodontitis, Prostatic neoplasm, Romano-Ward Syndrome, Seizure, Temporal lobe epilepsy, Torsades de Pointes, Ventricular tachycardia

Curated: Cardiac arrhythmia, Arrhythmogenic right ventricular cardiomyopathy, Arthrogryposis multiplex congenita, Atrial fibrillation, Atrial flutter, Atrial standstill, Autism, Brugada syndrome, Cardiac arrest, Cardiac conduction disease, Cardiac rhythm disease, Cardiomyopathy, Dilated cardiomyopathy, Conduction disorder of the heart, Congenital heart disease, Ectopic rhythm, Arrhythmogenic right ventricular dysplasia, Long qt syndrome, Sick sinus syndrome, Heart failure, Hereditary atrial fibrillation, Hereditary bundle branch system defect, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Long qt syndrome, digenic, Migraine, Paroxysmal familial ventricular fibrillation, Paroxysmal tachycardia, Paroxysmal ventricular fibrillation, Pena-shokeir syndrome , Polymorphic catecholaminergic ventricular tachycardia, Short qt syndrome, Torsades de pointes, Ventricular fibrillation, Catecholaminergic polymorphic ventricular tachycardia, Wolff-parkinson-white syndrome, dilated cardiomyopathy 1E, SCN5A-related cardiac rhythm disorder

Unreviewed: Acoustic Neuroma, Amelogenesis Imperfecta, Andersen Syndrome, Andersen-tawil syndrome, Atherosclerosis, Atrial Fibrillation, Atrioventricular block, Bloom Syndrome, Bradyarrhythmia, Bradycardia, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Brugada Syndrome, Bundle Branch Block, Cardiac arrhythmias, Cardiac Defects, Cardiovascular Diseases, Cleidocranial Dysplasia, Colon Carcinoma, Colonic Neoplasms, Colorectal neoplasm, Conduct disorder, Conduction Disorder Of The Heart, Congenital heart defect, Congenital heart defects, Congenital Heart Disease, Congenital heart septal defect, Congenital Long QT Syndrome, Congenital primary aphakia, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Deafness, Diarrhea, Dilated Cardiomyopathy, Duchenne muscular dystrophy, Dysautonomia, Epilepsy, Gitelman Syndrome, Hearing Loss, Heart Block, Heart disease, Heart Diseases, Heart Failure, Hereditary Bundle Branch System Defect, Hydrops fetalis, Hypertension, Hypoxia, Idiopathic ventricular fibrillation, Irritable Bowel Syndrome, Ischemic stroke, Jervell-Lange Nielsen Syndrome, Left anterior fascicular block, Left Bundle-Branch Block, Left posterior fascicular block, Left ventricular noncompaction, Lipoatrophy, Lipodystrophy, Long QT Syndrome, LONG QT SYNDROME DIGENIC, Lymphatic metastasis, Mammary Neoplasms, Microvascular angina, Mitral valve prolapse, Multiple Congenital Anomalies, Myocardial Infarction, Myocardial Ischemia, Myopathy, Myotonic dystrophy, Neurofibromatosis, Neurogenic diabetes insipidus, Nonprogressive Cardiac Conduction Defect, Nonprogressive Heart Block, Palmoplantar keratoderma, Paralysis, Paroxysmal atrial fibrillation, Paroxysmal ventricular tachycardia, Primary microcephaly, Progressive Cardiac Conduction Defect, Romano-Ward Syndrome, Seizures, Sick Sinus Syndrome, Sinus Node Dysfunction, Sleep disorder, Sleep Disorders, Spastic paraplegia, Squamous cell carcinoma, ST Segment Elevation Myocardial Infarction, Stroke, Supraventricular tachycardia, Torsades de Pointes, Trichohepatoenteric Syndrome, Trifascicular block, Turner Syndrome, Ventricular arrhythmia, Ventricular Cardiomyopathy, Ventricular ectopy, Ventricular Fibrillation, Ventricular tachycardia, Wolff-Parkinson-White Syndrome

Curated: Amyotrophic lateral sclerosis, Autism, Holoprosencephaly, Peripheral neuropathy, Scoliosis

Unreviewed: Adenocarcinoma, Adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Aplasia Cutis Congenita, Appendicitis, Arteriosclerosis, Asthma, Atherosclerosis, Brain neoplasms, Burkitt`s Lymphoma, Carcinogenesis, Cirrhosis, Cognition disorder, Colorectal Cancer, Colorectal neoplasm, Congestive Heart Failure, Coronary Heart Disease, Cystinosis, Cystitis, Dentatorubral Pallidoluysian Atrophy, Developmental Delay, Diabetes Mellitus, Diabetic neuropathy, Epilepsy, Epileptic encephalopathy, Fanconi Syndrome, Gastritis, Gingival diseases, Glomerulosclerosis, Heart Failure, Hydronephrosis, Hypertension, Interstitial Nephritis, Intrahepatic cholestasis, Kidney Disease, Kidney Failure, Liver Cirrhosis, Lung Cancer, Lung carcinoma, Lung neoplasms, Microcephaly, Mucopolysaccharidosis, Multiple myeloma, Myelodysplastic Syndrome, Myoclonic Epilepsy, Neoplasms, Nephrotic Syndrome, Neuroblastoma, Oculocerebrorenal Syndrome, Oculocutaneous albinism, Panic Disorder, Prostatic hyperplasia, Psoriasis, Renal Glomerular Disease, Renal Insufficiency, Renal Tubular Disorder, Stomach Carcinoma, Stomach Neoplasms, Urolithiasis

Curated: Alzheimer disease, Arthrogryposis multiplex congenita, Ataxia, Autism, Nonsyndromic intellectual disability, Benign infantile epilepsy, Bipolar disorder, Cerebellar ataxia, Choreoathetosis, Cognitive impairment with or without cerebellar ataxia, Neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Developmental regression, Digestive system disease, Partial epilepsy, Epilepsy, Febrile convulsion, Focal onset epileptic seizure, Global developmental delay, Intellectual developmental disorder, Major depressive disorder, Mood disorder, Nervous system disease, Non-specific syndromic intellectual disability, Pena-shokeir syndrome , Seizures, Intellectual disability, Spastic ataxia, Status epilepticus, Tremor, West syndrome, complex neurodevelopmental disorder

Unreviewed: Absence epilepsy, alpha Thalassemia, Amyotrophic Lateral Sclerosis, Arthritis, Asthma, Atrial Fibrillation, Atrophy, Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Benign Epilepsy, Benign neonatal epilepsy, Bipolar Disorder, Bone Disease, Borderline personality disorder, Bowel incontinence, Brachycephaly, Brain disease, Bronchopulmonary Dysplasia, Bulbar palsy, Cardiovascular Diseases, Cerebellar atrophy, Cerebellar diseases, Cerebellar medulloblastoma, Cerebral Atrophy, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cognition disorder, Cognitive disorder, Colorectal neoplasm, Congenital hyperinsulinism, Contiguous gene syndrome, Convulsions And Choreoathetosis, Dermatitis, Developmental Delay, Diabetes Mellitus, Diastrophic Dysplasia, Dwarfism, Dyscognitive seizures, Dyskinesia, Dyskinetic Syndrome, Dysmorphic Features, Dysphagia, Dysphasia, Dysplastic Nevus, Dystonia, Epilepsy With Encephalopathy, Epileptic encephalopathy, Episodic ataxia, Febrile seizures, Frontal bossing, Frontotemporal dementia, Gastroesophageal Reflux Disease, Generalized epilepsy, Glioma, Grand Mal Status Epilepticus, Hallucinations, Hemoglobin H Disease, Hereditary Hemorrhagic Telangiectasia, Hypercholesterolemia, Hyperlipoproteinemia, Hypersensitivity, Hypertension, Hypodontia, Impaired Cognition, Infantile convulsions and choreoathetosis, Keratoconjunctivitis Sicca, Kidney Disease, Leukoencephalopathy, Lymphatic metastasis, Medulloblastoma, Mental Depression, Mental Disorders, Mental retardation, Metabolic Diseases, Metachromatic leukodystrophy, Microcephaly, Micrognathism, Migraine, Migrating Partial Seizures In Infancy, Mirror Movements, Movement disorder, Movement Disorders, Multiple Epiphyseal Dysplasia, Multiple Sclerosis, Myoclonic Epilepsy, Neoplasms, Nervous System Disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuromuscular disease, Neuromuscular Diseases, Non-Specifi Epileptic Encephalopathy, Nonconvulsive status epilepticus, Nystagmus, Optic Atrophy, Osteopenia, Osteosarcoma, Pancreatic adenocarcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Parkinson disease, Paroxysmal nonkinesigenic dyskinesia, Petit Mal Status, Precocious puberty, Pseudoachondroplasia, Psychiatric disorders, Ptosis, Rett syndrome, Rubral Tremor, Salaam Seizures, Sarcoma, Seizure, Sleep Apnea, Spasms X-Linked, Spinocerebellar Ataxia, Status Epilepticus, Stereotyped Behavior, Syndactyly Of The Toes, Trigeminal neuralgia, Triple Negative Breast Neoplasms, Uterine neoplasm

Curated: Biliary atresia, Charcot-marie-tooth disease, Chronic pain, Congenital insensitivity to pain, Congenital pain insensitivity, Dental caries, Diverticular disease, Dravet syndrome, Epilepsy, Rolandic epilepsy, Primary erythromelalgia, Erythromelalgia, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Global developmental delay, Hereditary sensory and autonomic neuropathy, Hypoglycemia, Paroxysmal extreme pain disorder, Pruritus, Schizophrenia

Unreviewed: Acrosteolysis, Anhidrosis, Anosmia, Anxiety Disorder, Arthritis, Asthma, Autism, Autism Spectrum Disorder, Autonomic Central Nervous System Diseases, Bilateral convulsive seizures, Bipolar disorder, Borderline personality disorder, Bradycardia, Brain disease, Breast neoplasm, Central Visual Impairment, Cerebral Atrophy, Cognition disorder, Congenital Pain Insensitivity, Corneal dystrophy, Coronary Arteriosclerosis, Cortical Dysplasia, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Developmental regression, Diabetic neuropathy, Drachtman Weinblatt Sitarz syndrome, Dravet Syndrome, Dysautonomia, Dyscognitive seizures, Dysosteosclerosis, Ectodermal dysplasia, Edema, Endometriosis, Epilepsy With Febrile Seizures Plus, Epileptic encephalopathy, Erythermalgia, Eye pain, Febrile seizures, Focal Clonic Seizures, Fraser syndrome, Gastroesophageal Reflux Disease, Generalized Epilepsy with Febrile Seizures Plus, Glioblastoma, Headache, Heart disease, Heart failure, Hyperalgesia, Hypohidrosis, Hypophosphatasia, Hypotonic seizures, Impaired Cognition, Intellectual developmental disorder, Interstitial Cystitis, Keratoconjunctivitis Sicca, Language development disorders, Leukemia, Malignant Neoplasm, Migraine, Motor delay, Myocardial Ischemia, Myoclonic Astatic Epilepsy, Myoclonic Encephalopathy, Myoclonic Epilepsy, Myoclonic Seizures, Myotonia Levior, Nervous system disease, Nervous System Diseases, Neuroblastoma, Neuropathy, Obtundation status, Orthostatic hypotension, Osteoarthritis, Pancreatic cancer, Pancreatic carcinoma, Parkinson disease, Paronychia Inflammation, Peripheral nervous system disease, Peripheral Neuropathy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Rhabdomyosarcoma, Scleroderma, Seizure, Seizures, Sensory Neuropathy, Hereditary, Small Fiber Neuropathy, Sodium Channelopathy-Related Small Fiber Neuropathy, Somatoform Disorder, Status Epilepticus, Stomach Carcinoma, Stomach Neoplasms, Vasculitis

Curated: Orofaciodigital syndrome

Unreviewed: N/A

Curated: Ankylosing spondylitis, Autism, Autoinflammatory syndrome, Bronchiectasis, Brugada syndrome, Crohn disease, Cystic fibrosis, Hypertension, Inflammatory bowel disease, Liddle syndrome, Lung disease, Obesity, Polycystic ovary syndrome, Preeclampsia, Biliary cholangitis, Proteinuria, Pseudohypoparathyroidism, Psoriasis, Ulcerative colitis, pseudohypoaldosteronism, type IB1, autosomal recessive

Unreviewed: Amyotrophic Lateral Sclerosis, Ankylosing Spondylitis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Brugada Syndrome, Ciliopathies, Congenital alveolar dysplasia, Congenital secretory diarrhea, Cystic Fibrosis, Cystic fibrosis of pancreas, Diabetes mellitus, Embryonal Neoplasm, Gastric Cancer, Glioblastoma, Hyperaldosteronism, Hypercholesterolemia, Hyperinsulinism, Hyperlipoproteinemia, Hyperpotassemia And Hypertension, Kidney Disease, Liddle Syndrome, Lung Cancer, Lung carcinoma, Lung Diseases, Metabolic alkalosis, Metabolic Syndrome, Myocardial Infarction, Myotonic dystrophy, Neoplasm, Neuroblastoma, Ovarian neoplasm, Pancreatic neoplasm, Pelger-Huet Anomaly, Polycystic Ovary Syndrome, Prostatic neoplasm, Pseudohypoaldosteronism, Pulmonary arterial hypertension, Pulmonary Cystic Fibrosis, Renal Insufficiency, Respiratory system infectious disease, Sclerocystic Ovaries, Tumor

Curated: Autism, Bronchiectasis, Cystic fibrosis, Diabetic ketoacidosis, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Hypertension, Liddle syndrome, Lung disease, Nephrolithiasis, Pseudohypoparathyroidism, Schizophrenia, Diabetes mellitus type 1

Unreviewed: Bartter syndrome, Breast Cancer, Carcinogenesis, Cardiovascular disease, Chronic obstructive pulmonary disease, Ciliopathies, Colorectal Cancer, Colorectal neoplasm, Conn Syndrome, Cystic Fibrosis, Cystic fibrosis of pancreas, Eosinophilia, Gastric Cancer, Glioma, Hyperaldosteronism, Hypernatriuria, Hyperpotassemia And Hypertension, Hypokalemia, Hypotension, Kidney Disease, Liddle Syndrome, Lung Diseases, Malignant Neoplasm, Metabolic alkalosis, Myocardial Infarction, Neoplasms, Neutrophilia, Osteoporosis, Pelger-Huet Anomaly, Pseudohypoaldosteronism, Pulmonary arterial hypertension, Pulmonary Cystic Fibrosis, Renal Carcinoma, Renal Insufficiency, Renovascular hypertension, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Ulcerative colitis

Curated: N/A

Unreviewed: Cystic Fibrosis, Diabetes mellitus, Epilepsy, Gastroesophageal Reflux Disease, Glioma, Lung Diseases, Melanoma