|
651
|
|
|
SATB homeobox 1 |
DEFDA, DHDBV, KTZSL |
|
|
652
|
|
|
SET binding factor 1 |
CMT4B3, DENND7A, MTMR5 |
|
|
653
|
|
|
Sterol-C5-desaturase |
ERG3, S5DES, SC5DL |
Arnold-chiari malformation, Cataract, Cerebellar cortical atrophy, Congenital epicanthus, Congenital hypoplasia of penis, Congenital meningocele, Developmental delay, Foot polydactyly, Hearing loss, High palate, Horseshoe kidney, Mental retardation, Intrahepatic cholestasis, Lathosterolosis, Liver failure, Microcephaly, Microcornea, Micrognathism, Polydactyly, Ptosis, Specific learning disorder, Syndactyly of the toes, Talipes, Postaxial hand polydactylyView all (9 more) |
|
654
|
|
|
Serpin family B member 3 |
HsT1196, SCC, SCCA-1, SCCA-PD, SCCA1, SSCA1, T4-A |
|
|
655
|
|
|
Serpin family B member 4 |
LEUPIN, PI11, SCCA-2, SCCA1, SCCA2 |
|
|
656
|
|
|
Stearoyl-CoA desaturase |
FADS5, MSTP008, SCD1, SCDOS, hSCD1 |
|
|
657
|
|
|
Sodium voltage-gated channel alpha subunit 1 |
DEE6, DEE6A, DEE6B, DRVT, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI |
Absence seizure, Anxiety disorder, Autism spectrum disorder, Autism, Bilateral convulsive seizures, Central visual impairment, Cerebral atrophy, Cerebral microangiopathy, Developmental dysplasia of the hip, Cortical dysplasia, Developmental delay, Developmental regression, Dravet syndrome, Dyscognitive seizures, Dysmorphic features, Dysphasia, Epilepsy, Epilepsy with febrile seizures plus, Epilepsy with tonic-clonic seizures, Epileptic encephalopathy, Febrile convulsions, Febrile seizures, Focal clonic seizures, Frontal bossing, Generalized epilepsy with febrile seizures plus, Hearing loss, Hemimegalencephaly, Hemiplegia/hemiparesis, Hemiplegic migraine, Hypotonic seizures, Impaired cognition, Mental retardation, Lennox-gastaut syndrome, Malformation of cortical development, Malignant migrating partial seizures of infancy, Megalencephaly, Mesial temporal lobe epilepsy with hippocampal sclerosis, Migraine with aura, Motor delay, Movement disorders, Myoclonic astatic epilepsy, Myoclonic encephalopathy, Myoclonic epilepsy, Myoclonic seizures, Myotonia levior, Neurodevelopmental disorders, Nonconvulsive seizure disorder, Nystagmus, Obesity, Obtundation status, Personality disorders, Polymicrogyria, Retinitis pigmentosa, Seizure, Spasms x-linked, Speech delay, Status epilepticus, Status marmoratus, TalipesView all (44 more) |
|
658
|
|
|
Sodium voltage-gated channel beta subunit 1 |
ATFB13, BRGDA5, DEE52, EIEE52, GEFSP1 |
Absence seizure, Anxiety disorder, Atrial fibrillation, Atrioventricular block, Autism, Bilateral convulsive seizures, Brugada syndrome, Bundle branch block, Cardiac conduction disease, Cardiomyopathy, 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, Generalized epilepsy with febrile seizures plus, Hereditary bundle branch system defect, Hypotonic seizures, Impaired cognition, Myoclonic epilepsy, Myoclonic seizures, Obtundation status, Paroxysmal atrial fibrillation, Paroxysmal ventricular tachycardia, Progressive cardiac conduction defect, Seizure, Sick sinus syndrome, Sinus node dysfunction, Supraventricular tachycardia, Trifascicular block, Ventricular fibrillationView all (22 more) |
|
659
|
|
|
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 |
Anxiety disorder, Autism, Benign epilepsy, Bilateral convulsive seizures, Bipolar disorder, Cerebellar atrophy, Choreoathetosis, Clonic seizures, Congenital exomphalos, Cortical dysplasia, Developmental delay, Developmental regression, Dravet syndrome, Dysarthria, Dyscognitive seizures, Dyskinesia, Dyskinetic syndrome, Dysmorphic features, Dysphasia, Dyssomnia, Epilepsy, Epilepsy with febrile seizures plus, Epileptic encephalopathy, Episodic ataxia, Febrile seizures, Focal clonic seizures, Focal seizures, Generalized epilepsy with febrile seizures plus, Hallucinations, Hypoplasia of corpus callosum, Hypotonic seizures, Impaired cognition, Manic disorder, Mental depression, Mental retardation, Microcephaly, Migraine, Myoclonic epilepsy, Myoclonic seizures, Neurodevelopmental disorders, Nystagmus, Obtundation status, Pachygyria, Parkinson disease, Penis agenesis, Precocious puberty, Renal dysplasia, Seizure, Sleep disorders, Spasms syndrome, Spastic quadriplegia, Status epilepticus, Strabismus, Ureterocele, Ventricular septal defect, West syndromeView all (41 more) |
|
660
|
|
|
Sodium voltage-gated channel beta subunit 2 |
ATFB14 |
Atrial fibrillation, Atrioventricular block, Brugada syndrome, Bundle branch block, Cardiac conduction disease, Paroxysmal atrial fibrillation, Paroxysmal ventricular tachycardia, Sick sinus syndrome, Sinus node dysfunction, Supraventricular tachycardia, Trifascicular block, Ventricular fibrillation |
