TaoMedAI/RareMedData huggingface dataset:
Gene: SCN5A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Dyspnea (HP:0002094)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Gene: SCN5A
Phenotype: Absent P wave (HP:0033122)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Left anterior fascicular block (HP:0011711)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Bundle branch block (HP:0011710)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Mobitz I atrioventricular block (HP:0011707)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Atrial flutter (HP:0004749)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Atrial flutter (HP:0004749)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Atrial flutter (HP:0004749)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Ventricular flutter (HP:0011841)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Congenital onset (HP:0003577)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Adult onset (HP:0003581)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Aphasia (HP:0002381)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Vertigo (HP:0002321)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Headache (HP:0002315)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Palpitations (HP:0001962)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Second trimester onset (HP:0034198)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Heart block (HP:0012722)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Childhood onset (HP:0011463)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Childhood onset (HP:0011463)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Supraventricular tachycardia with an accessory connection mediated pathway (HP:0011688)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Right ventricular dilatation (HP:0005133)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Fatigue (HP:0012378)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Left posterior fascicular block (HP:0005172)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Complete heart block with broad QRS complexes (HP:0005170)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Sudden death (HP:0001699)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Sudden death (HP:0001699)
Associated disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Gene: SCN5A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Tachycardia (HP:0001649)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 (OMIM:603829)
Gene: SCN5A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 (OMIM:603829)
Gene: SCN5A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Bradycardia (HP:0001662)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Bradycardia (HP:0001662)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial progressive cardiac conduction defect; Familial Lev disease; Familial progressive heart block; Familial Lenègre disease; Familial Lev-Lenègre disease; Familial PCCD; Hereditary bundle branch defect (ORPHA:871)
Gene: SCN5A
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Reduced systolic function (HP:0006673)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Abnormal P wave (HP:0031595)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN8A
Phenotype: Severe temper tantrums (HP:0025162)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Hypertonia (HP:0001276)
Associated disease: BFIE; BFIS; Benign familial infantile epilepsy; SeLIE; Benign familial infantile seizures; Self-limited infantile epilepsy; Benign familial infantile convulsions (ORPHA:306)
Gene: SCN8A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Seizure (HP:0001250)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Seizure (HP:0001250)
Associated disease: Paroxysmal kinesigenic dyskinesia and infantile convulsions; Infantile convulsions and choreoathetosis; ICCA syndrome (ORPHA:31709)
Gene: SCN8A
Phenotype: Hypotonia (HP:0001252)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13 (OMIM:614558)
Gene: SCN8A
Phenotype: Ataxia (HP:0001251)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)
Gene: SCN8A
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOCLONUS, FAMILIAL, 2 (OMIM:618364)
Gene: SCN8A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:614306)