TaoMedAI/RareMedData huggingface dataset:
Gene: SCN9A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Pruritus (HP:0000989)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Anhidrosis (HP:0000970)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Pes valgus (HP:0008081)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Xerostomia (HP:0000217)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Hypogeusia (HP:0000224)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN9A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Tachycardia (HP:0001649)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Bradycardia (HP:0001662)
Associated disease: PAROXYSMAL EXTREME PAIN DISORDER (OMIM:167400)
Gene: SCN9A
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Complex febrile seizure (HP:0011172)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Atypical absence status epilepticus (HP:0011151)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Anosmia (HP:0000458)
Associated disease: INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE (OMIM:243000)
Gene: SCN9A
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Pes planus (HP:0001763)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN9A
Phenotype: Pes planus (HP:0001763)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN9A
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Paronychia (HP:0001818)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: SCN9A
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: SCN9A
Phenotype: Allodynia (HP:0012533)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN9A
Phenotype: Pain (HP:0012531)
Associated disease: ERYTHERMALGIA, PRIMARY (OMIM:133020)
Gene: SCN10A
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Seizure (HP:0001250)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN10A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2 (OMIM:615551)
Gene: SCN10A
Phenotype: Vasculitis (HP:0002633)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Constipation (HP:0002019)
Associated disease: Familial rectal pain; Paroxysmal extreme pain disorder (ORPHA:46348)
Gene: SCN10A
Phenotype: Hypothermia (HP:0002045)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Adult onset (HP:0003581)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2 (OMIM:615551)
Gene: SCN10A
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Erythema (HP:0010783)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Erythromelalgia (HP:0032147)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Pedal edema (HP:0010741)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Leukemia (HP:0001909)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: SCN10A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN10A
Phenotype: Allodynia (HP:0012533)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Dysesthesia (HP:0012534)
Associated disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2 (OMIM:615551)
Gene: SCN10A
Phenotype: Dysesthesia (HP:0012534)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCN10A
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: Primary erythromelalgia; Primary erythermalgia (ORPHA:90026)
Gene: SCNN1A
Phenotype: Halitosis (HP:0100812)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Clubbing (HP:0001217)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Abnormality of exocrine pancreas physiology (HP:0012092)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Hypotension (HP:0002615)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Hypovolemic shock (HP:0031274)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Nephropathy (HP:0000112)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Productive cough (HP:0031245)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Constipation (HP:0002019)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Diarrhea (HP:0002014)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Vomiting (HP:0002013)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Hyperpolarized transepithelial nasal potential difference (HP:6000100)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Emphysema (HP:0002097)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Dyspnea (HP:0002094)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Recurrent bronchiolitis (HP:0100501)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Pseudohypoaldosteronism (HP:0008242)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Pustule (HP:0200039)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Dehydration (HP:0001944)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Dehydration (HP:0001944)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Cachexia (HP:0004326)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Cough (HP:0012735)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Hypertension (HP:0000822)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Hypertension (HP:0000822)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Wheezing (HP:0030828)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Crackles (HP:0030830)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)