291
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Scm polycomb group protein like 4 |
dJ47M23.1 |
Curated: Alzheimer disease, Color vision deficiency, Coronary artery disease, Ear disorder, Schizophrenia, Scoliosis
Unreviewed: N/A
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292
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Sodium voltage-gated channel alpha subunit 10 |
FEPS2, Nav1.8, PN3, SNS |
Curated: Atrial fibrillation, Atrial flutter, Atrioventricular block, Autism, Brugada syndrome, Cardiac arrhythmia, Congenital insensitivity to pain, Episodic pain syndrome, Long qt syndrome, Sick sinus syndrome, Hyperalgesia, Migraine, Orofacial cleft, Paroxysmal extreme pain disorder, Erythromelalgia, Systemic lupus erythematosus, Hypertension, Ventricular fibrillation
Unreviewed: Arrhythmogenic right ventricular cardiomyopathy, Arthritis, Asthma, Atrial Fibrillation, Brugada Syndrome, Bundle Branch Block, Cardiac arrhythmias, Cardiac conduction disease, Cardiovascular Diseases, Catecholaminergic polymorphic ventricular tachycardia, Cerebellar Diseases, Chronic pain, Cognition disorder, Colorectal Cancer, Conduction Disorder Of The Heart, Congenital Pain Insensitivity, Congestive Heart Failure, Crohn disease, Diabetes, Diabetes Mellitus, Dysautonomia, Episodic Pain Syndrome, Erythermalgia, Gastrointestinal disease, Gastroparesis, Glioblastoma, Heart Block, Heart disease, Heart Diseases, Heart Failure, Hematologic Neoplasms, Hereditary sensory and autonomic neuropathy, Hirschsprung Disease, Hyperglycemia, Hypertrophic cardiomyopathy, Hypertrophy, Inflammatory Bowel Disease, Kidney stone, Left ventricular disease, Leukemia, Liver carcinoma, Long QT Syndrome, Macular degeneration, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Mantle Cell Lymphoma, Melanoma, Mental Depression, Mental Disorders, Multiple Sclerosis, Myocardial infarction, Neoplasms, Nephrolithiasis, Nervous System Diseases, Neuroblastoma, Obesity, Pancreatic cancer, Pancreatic carcinoma, Paresthesia, Paroxysmal atrial fibrillation, Paroxysmal ventricular tachycardia, Peripheral nervous system disease, Romano-Ward Syndrome, Septicemia, Short syndrome, Sick Sinus Syndrome, Sinus Node Dysfunction, Small Fiber Neuropathy, Sodium Channelopathy-Related Small Fiber Neuropathy, Supraventricular tachycardia, Syndromic microphthalmia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Torsades de Pointes, Trifascicular block, Trigeminal neuralgia, Ulcerative colitis, Uveal Melanoma, Vasculitis, Ventricular arrhythmia, Ventricular ectopy, Ventricular Fibrillation
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293
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Sodium voltage-gated channel alpha subunit 11 |
FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2 |
Curated: Hereditary sensory and autonomic neuropathy, Charcot-marie-tooth disease, Congenital insensitivity to pain, Congenital pain insensitivity, Dominantly inherited sensory neuropathy, Episodic pain syndrome, Motor neuron disease, Hyperalgesia, Migraine, Osteoarthritis, Paroxysmal extreme pain disorder, Erythromelalgia, Sensory neuropathy, hereditary sensory and autonomic neuropathy type 7
Unreviewed: Bipolar Disorder, Chronic pain, Congenital Pain Insensitivity, Diarrhea, Dysautonomia, Endometriosis, Episodic Pain Syndrome, Erythermalgia, Hereditary Motor And Sensory Neuropathy, Hypersomnia, Inclusion body myopathy, Inflammatory Bowel Disease, Intracranial Aneurysm, Leukemia, Motor delay, Nervous System Diseases, Neuromuscular disease, Neuropathy, Nonorganic Psychosis, Prostate cancer, Psychosis, Small Fiber Neuropathy, Sodium Channelopathy-Related Small Fiber Neuropathy, Tremor, Vasculitis
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294
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Sodium voltage-gated channel alpha subunit 1 |
DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI |
Curated: Arthrogryposis, Atrial fibrillation, Autism, Clinodactyly, Congenital joint contractures, Developmental and epileptic encephalopathy, Dravet syndrome, Myoclonic epilepsy, Epilepsy, Epilepsy of infancy with migrating focal seizures, Epilepsy with myoclonic atonic seizures, Generalized epilepsy, Rolandic epilepsy, Febrile convulsion, Focal onset epileptic seizure, Generalized epilepsy with febrile seizures plus, Global developmental delay, Hemiplegic migraine, Intellectual developmental disorder, Lennox-gastaut syndrome, Malignant migrating partial seizures of infancy, Migraine, Intellectual disability, Movement disorder, Neurodevelopmental disorder, Obesity, Partial epilepsy, Seizures, West syndrome, familial hemiplegic migraine, genetic developmental and epileptic encephalopathy
Unreviewed: Absence epilepsy, Absence Seizure, Adenocarcinoma, Alzheimer disease, Angelman syndrome, Anxiety Disorder, Apnea, Ataxia, Atrophy, Attention deficit hyperactivity disorder, Autism spectrum disorder, Benign Epilepsy, Benign neonatal epilepsy, Bilateral convulsive seizures, Bone disease, Bradycardia, Brain disease, Brain ischemia, Carcinoma, Cardiac arrhythmias, Cardiomyopathy, Cardiovascular abnormalities, Central Visual Impairment, Cerebral Atrophy, Cerebral Microangiopathy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choreoathetosis, Cognition disorder, Cognitive disorder, Colorectal Cancer, Colorectal neoplasm, Common Migraine, Congenital heart defects, Congenital Neutropenia, Convulsions, Cortical development malformation, Cortical Dysplasia, Cytochrome c oxidase deficiency, Deafness, Developmental Delay, Developmental disability, Developmental dysplasia of the hip, Developmental regression, Diastrophic dysplasia, Distal myopathy, Down syndrome, Dravet Syndrome, Dyscognitive seizures, Dysfibrinogenemia, Dysmorphic Features, Dysphasia, Dystonia, Encephalitis, Encephalopathy, Encephalopathy With Biphasic Seizures And Diffusion, Eosinophilia, Epilepsy And Migraine, Epilepsy With Encephalopathy, Epilepsy With Febrile Seizures Plus, Epilepsy with tonic-clonic seizures, Epileptic encephalopathy, Episodic ataxia, Eyelid disease, Facial nerve disorder, Febrile Convulsions, Febrile seizures, Fleck Corneal Dystrophy, Focal Clonic Seizures, Focal cortical dysplasia, Fraser syndrome, Frontal bossing, Gastroenteritis, Generalized Epilepsy With Febrile Seizures Plus, Grand Mal Status Epilepticus, Hearing Loss, Heart disease, Hemimegalencephaly, Hemiplegia, Hemiplegia/hemiparesis, Hemiplegic Migraine, Hepatic Coma, Hereditary Hemochromatosis, Hereditary Leber Optic Atrophy, Hyperkinesia, Hypotonic seizures, Immune system disease, Impaired Cognition, Infantile Spasms, Lafora Disease, Language development disorders, Leiomyosarcoma, Lennox-Gastaut Syndrome, Liver failure, Macular corneal dystrophy, Macular dystrophy, Malformation of cortical development, Malignant Neoplasm, Megalencephaly, Mental Disorders, Mental retardation, Mesial temporal lobe epilepsy with hippocampal sclerosis, Migraine with Aura, Migrating Partial Seizures In Infancy, Mitochondrial complex deficiency, Mitochondrial disease, Mitochondrial Diseases, Motor delay, Movement Disorders, Myoclonic Astatic Epilepsy, Myoclonic Encephalopathy, Myoclonic Epilepsy, Myoclonic Seizures, Myoclonic-Atonic Epilepsy, Myotonia Levior, Neoplasms, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodevelopmental Disorders, Neutropenia, Nocturnal Epilepsy, Nonconvulsive Seizure Disorder, Nystagmus, Obtundation status, Open angle glaucoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Panayiotopoulos Syndrome, Paralysis, Parkinson disease, Paroxysmal extreme pain disorder, Periventricular nodular heterotopia, Personality Disorders, Polymicrogyria, Prostate cancer, Psychiatric disorders, Psychotic disorders, Rasmussen`s Syndrome, Retinitis Pigmentosa, Rett Syndrome, Sarcoma, Seizure, Sepsis, Septicemia, Sleep Disorders, Spasms X-Linked, Speech Delay, Status Epilepticus, Status marmoratus, Stevens-Johnson Syndrome, Syndactyly, Talipes, Temporal lobe epilepsy, Thrombocytopenia, Tonic-Clonic Epilepsy, Trichohepatoenteric Syndrome, West Syndrome
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295
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SCN1A and SCN9A antisense RNA 1 |
SCN1A-NAT, SCN1ANAT |
Curated: N/A
Unreviewed: Autism, Developmental Delay, Developmental dysplasia of the hip, Dysmorphic Features, Epilepsy, Epilepsy With Febrile Seizures Plus, Epileptic encephalopathy, Erythermalgia, Febrile Convulsions, Febrile seizures, Frontal bossing, Generalized Epilepsy with Febrile Seizures Plus, Hemimegalencephaly, Hemiplegic Migraine, Leukemia, Malformation of cortical development, Megalencephaly, Mental retardation, Mesial temporal lobe epilepsy with hippocampal sclerosis, Movement Disorders, Neuropathy, Obesity, Paroxysmal extreme pain disorder, Polymicrogyria, Small Fiber Neuropathy, Spasms X-Linked, Speech Delay, Talipes
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296
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Sodium voltage-gated channel beta subunit 1 |
ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1 |
Curated: Atrial fibrillation, Brugada syndrome, Cardiac arrhythmia, Cardiac conduction disease, Cardiomyopathy, Childhood absence epilepsy, Conduction disorder of the heart, Developmental and epileptic encephalopathy, Dravet syndrome, Rolandic epilepsy, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Hereditary atrial fibrillation, Hereditary bundle branch system defect, Long qt syndrome, Seizures, Ventricular fibrillation, genetic developmental and epileptic encephalopathy
Unreviewed: Absence Seizure, Amelogenesis Imperfecta, Anxiety Disorder, Atrial Fibrillation, Atrioventricular block, Autism, Benign Epilepsy, Bilateral convulsive seizures, Brain disease, Breast Cancer, Breast Carcinoma, Brugada Syndrome, Bundle Branch Block, Cardiac arrhythmias, Colorectal neoplasm, Conduction Disorder Of The Heart, Congestive Heart Failure, Cortical Dysplasia, Developmental Delay, Developmental regression, Dravet Syndrome, Dyscognitive seizures, Epilepsy, Epilepsy With Febrile Seizures Plus, Epileptic encephalopathy, Febrile seizures, Focal Clonic Seizures, Fraser syndrome, Gastroenteritis, Generalized Epilepsy With Febrile Seizures Plus, Hearing loss, Heart disease, Hereditary Bundle Branch System Defect, Heterotaxy syndrome, Hirschsprung Disease, Hypertrophic cardiomyopathy, Hypotonic seizures, Impaired Cognition, Imperforate anus, Irritable bowel syndrome, Liddle syndrome, Long QT Syndrome, Myoclonic Epilepsy, Myoclonic Seizures, Obtundation status, Paroxysmal atrial fibrillation, Paroxysmal extreme pain disorder, Paroxysmal ventricular tachycardia, Progressive Cardiac Conduction Defect, Seizure, Sick Sinus Syndrome, Sinus Node Dysfunction, Spasms X-Linked, Status epilepticus, Supraventricular tachycardia, Trifascicular block, Ventricular Fibrillation
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297
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|
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Sodium voltage-gated channel alpha subunit 2 |
BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2 |
Curated: Attention deficit hyperactivity disorder, Autism, Benign infantile epilepsy, Benign neonatal-infantile seizures, Benign neonatal epilepsy, Bipolar disorder, Neurodevelopmental disorder, Bipolar depression, Developmental and epileptic encephalopathy, Developmental disability, Dravet syndrome, Dystonia, Partial epilepsy, Epilepsy, Epilepsy of infancy with migrating focal seizures, Pyridoxine dependent epilepsy, Rolandic epilepsy, Episodic ataxia, Febrile convulsion, Generalized epilepsy with febrile seizures plus, Global developmental delay, Hemiplegia, Intellectual developmental disorder, Lennox-gastaut syndrome, Malignant migrating partial seizures of infancy, Metabolic syndrome, Movement disorder, Non-specific syndromic intellectual disability, Parkinson disease, Periodontitis, Seizures, Spastic ataxia, Substance abuse, Diabetes mellitus type 2, West syndrome, complex neurodevelopmental disorder
Unreviewed: Absence epilepsy, Alpha thalassemia, Alternating hemiplegia of childhood, Anemia, Anxiety Disorder, Atrial Fibrillation, Atrial Septal Defect, Autism spectrum disorder, Benign Epilepsy, Beta thalassemia, Bilateral convulsive seizures, Bipolar Disorder, Brain atrophy, Brain disease, Brain neoplasms, Breast Cancer, Breast Carcinoma, Cardiac arrhythmias, Cardiovascular Diseases, Cerebellar atrophy, Cerebral Atrophy, CHARGE Syndrome, Chorea, Choreoathetosis, Clonic Seizures, CNS Disorder, Cognitive disorder, Colitis, Colorectal neoplasm, Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Congenital Exomphalos, Convulsions, Cortical development malformation, Cortical Dysplasia, Development Disorder, Developmental Delay, Developmental regression, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Dravet Syndrome, Dysarthria, Dyscognitive seizures, Dyskinesia, Dyskinetic Syndrome, Dysmorphic Features, Dysphasia, Dyssomnia, Ear disease, Encephalopathy, Encephalopathy With Biphasic Seizures And Diffusion, Epilepsy With Febrile Seizures Plus, Epilepsy, Benign, Epileptic encephalopathy, Episodic Ataxia, Febrile seizures, Focal Clonic Seizures, Focal Seizures, Fragile X Syndrome, Generalized epilepsy, Generalized Epilepsy With Febrile Seizures Plus, Hallucinations, Hearing loss with stapes fixation, Hydrocephalus, Hydrops Fetalis, Hypersensitivity, Hypersomnia, Hypoplasia Of Corpus Callosum, Hypotension, Hypotonic seizures, Impaired Cognition, Infantile Spasms, Kidney neoplasm, Lung disease, Major depressive disorder, Malignant Neoplasm, Manic Disorder, Mental Depression, Mental Disorders, Mental retardation, Metachromatic leukodystrophy, Microcephaly, Migraine, Migrating Partial Seizures In Infancy, Movement Disorders, Multiple sclerosis, Myoclonic Epilepsy, Myoclonic Seizures, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neurodevelopmental Disorders, Nystagmus, Obtundation status, Ovarian neoplasm, Pachygyria, Paroxysmal extreme pain disorder, Penis Agenesis, Peripheral nervous system disease, Peripheral Neuropathy, Polymicrogyria, Prader-Willi-Like Syndrome, Precocious puberty, Renal dysplasia, Schizophrenia, Seizure, Sickle cell anemia, Sleep Disorders, Spasms Syndrome, Spasms X-Linked, Spastic Quadriplegia, Status Epilepticus, Strabismus, Stroke, Temporal lobe epilepsy, Tourette Syndrome, Ureterocele, Vascular Diseases, Ventricular septal defect, West Syndrome
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298
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|
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Sodium voltage-gated channel beta subunit 2 |
ATFB14 |
Curated: Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy, Hereditary atrial fibrillation, Preeclampsia
Unreviewed: Atrial Fibrillation, Atrioventricular block, Brugada Syndrome, Bundle Branch Block, Cardiac conduction disease, Cardiomyopathy, Charcot-Marie-Tooth Disease, Cognition disorder, Epilepsy, Epileptic encephalopathy, Myoclonic Epilepsy, Paroxysmal atrial fibrillation, Paroxysmal ventricular tachycardia, Seizure, Sick Sinus Syndrome, Sinus Node Dysfunction, Supraventricular tachycardia, Trifascicular block, Ventricular Fibrillation
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299
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|
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Sodium voltage-gated channel alpha subunit 3 |
DEE62, EIEE62, FFEVF4, NAC3, Nav1.3 |
Curated: Developmental and epileptic encephalopathy, Developmental delay, Epilepsy, Complex partial epilepsy, Familial focal epilepsy with variable foci, Neurodevelopmental disorder, Perisylvian syndrome, Polymicrogyria, genetic developmental and epileptic encephalopathy
Unreviewed: Arthritis, Attention Deficit Hyperactivity Disorder, Autism, Autism spectrum disorder, Benign neonatal epilepsy, Brain disease, Breast Cancer, Breast Carcinoma, Bulbospinal Atrophy, X-Linked, Cerebral Atrophy, Convulsions, Cortical development malformation, Cryptogenic Partial Complex Epilepsy, Developmental Delay, Developmental disability, Developmental regression, Dwarfism, Dysautonomia, Dyskinetic Syndrome, Dysphagia, Epileptic encephalopathy, Fraser syndrome, Gastroesophageal Reflux Disease, Generalized epilepsy with febrile seizures plus, Heart disease, Hypodontia, Hypoplasia Of Corpus Callosum, Infantile spasms, Intellectual developmental disorder, Kawasaki disease, Mental Disorders, Mental retardation, Microcephaly, Neoplasms, Neurodevelopmental Disorders, Non-Specifi Epileptic Encephalopathy, Nystagmus, Obsessive-Compulsive Disorder, Optic Atrophy, Partial epilepsy, Ptosis, Retinitis Pigmentosa, Seizures, Spasms X-Linked, Spastic Quadriplegia, Status Epilepticus, Tetralogy of fallot, Tourette Syndrome, West Syndrome
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300
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|
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Sodium voltage-gated channel beta subunit 3 |
ATFB16, BRGDA7, HSA243396, SCNB3 |
Curated: Brugada syndrome, Cardiac arrhythmia, Colorectal cancer, Atrial fibrillation, Hereditary atrial fibrillation, Long qt syndrome, Schizoaffective disorder
Unreviewed: Atrial Fibrillation, Atrioventricular block, Brain neoplasms, Brugada Syndrome, Bundle Branch Block, Cardiac conduction disease, Colorectal Cancer, Edema, Epilepsy, Glioma, Hypoxia, Paroxysmal ventricular fibrillation, Paroxysmal ventricular tachycardia, Schizoaffective Disorder, Seizure, Sick Sinus Syndrome, Sinus Node Dysfunction, Supraventricular tachycardia, Trifascicular block, Ventricular Fibrillation
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