TaoMedAI/RareMedData huggingface dataset:
Gene: SCN4A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Hip contracture (HP:0003273)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Choking episodes (HP:0030842)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Stridor (HP:0010307)
Associated disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Gene: SCN4A
Phenotype: Stridor (HP:0010307)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Pes valgus (HP:0008081)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Pes valgus (HP:0008081)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Kyphosis (HP:0002808)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Chest tightness (HP:0031352)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Death in infancy (HP:0001522)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Ascites (HP:0001541)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Triangular mouth (HP:0000207)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Cold paresis (HP:0031372)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Fatigue (HP:0012378)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Fatigue (HP:0012378)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Abnormal circulating potassium concentration (HP:0011042)
Associated disease: Paramyotonia congenita; Paramyotonia congenita of Von Eulenburg (ORPHA:684)
Gene: SCN4A
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Weak cry (HP:0001612)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Weak cry (HP:0001612)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Gene: SCN4A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Bradycardia (HP:0001662)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Breech presentation (HP:0001623)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Breech presentation (HP:0001623)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Gene: SCN4A
Phenotype: Strabismus (HP:0000486)
Associated disease: Fluctuating myotonia; Myotonia fluctuans; Exercise-induced delayed-onset myotonia (ORPHA:99734)
Gene: SCN4A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Gene: SCN4A
Phenotype: Proptosis (HP:0000520)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Proptosis (HP:0000520)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Myotonia permanens (ORPHA:99735)
Gene: SCN4A
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Myotonia-painful contractions syndrome; Acetazolamide-responsive congenital myotonia; ACZ-responsive congenital myotonia; Painful myotonia; Painful congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive myotonia (ORPHA:99736)
Gene: SCN4A
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Familial hyperPP; Adynamia episodica hereditaria; Hyperkalemic PP; Familial hyperkalemic periodic paralysis; HyperPP; HyperKPP; Hyperkalemic periodic paralysis; HYPP; Primary hyperkalemic periodic paralysis; Primary hyperPP; Gamstorp disease; Gamstorp episodic adynamy (ORPHA:682)
Gene: SCN4A
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Pain (HP:0012531)
Associated disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Gene: SCN4A
Phenotype: Talipes (HP:0001883)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4A
Phenotype: Talipes (HP:0001883)
Associated disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Gene: SCN4A
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: SCN4A
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Gene: SCN4A
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Gene: SCN4B
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Adult onset (HP:0003581)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: T-wave alternans (HP:0012266)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN4B
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN4B
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 10 (OMIM:611819)
Gene: SCN4B
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: SCN5A
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Stroke (HP:0001297)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Stroke (HP:0001297)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
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: Syncope (HP:0001279)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN5A
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 (OMIM:603829)
Gene: SCN5A
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Gene: SCN5A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 3 (OMIM:603830)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 1 (OMIM:601144)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SCN5A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Atrial standstill (HP:0025478)
Associated disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Gene: SCN5A
Phenotype: Atrial standstill (HP:0025478)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Gene: SCN5A
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN5A
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Gene: SCN5A
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Nausea (HP:0002018)
Associated disease: Atrial cardiomyopathy with heart block; Atrial standstill (ORPHA:1344)
Gene: SCN5A
Phenotype: Abdominal pain (HP:0002027)
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: Apneic episodes in infancy (HP:0005949)
Associated disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Gene: SCN5A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)