TaoMedAI/RareMedData huggingface dataset:
Gene: SCNN1A
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Gene: SCNN1A
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Fatigue (HP:0012378)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Hyponatremia (HP:0002902)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Gene: SCNN1A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: LIDDLE SYNDROME 3 (OMIM:618126)
Gene: SCNN1A
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1A
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCNN1A
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1A
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1A
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Halitosis (HP:0100812)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Clubbing (HP:0001217)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
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: SCNN1B
Phenotype: Abnormality of exocrine pancreas physiology (HP:0012092)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: SCNN1B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: SCNN1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Hypotension (HP:0002615)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Hypovolemic shock (HP:0031274)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Nephropathy (HP:0000112)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Productive cough (HP:0031245)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Constipation (HP:0002019)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Emphysema (HP:0002097)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
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: SCNN1B
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: SCNN1B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
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: SCNN1B
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
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: SCNN1B
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Pustule (HP:0200039)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Hypokalemic alkalosis (HP:0001949)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Dehydration (HP:0001944)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Dehydration (HP:0001944)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Cachexia (HP:0004326)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Cough (HP:0012735)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: SCNN1B
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
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: SCNN1B
Phenotype: Hypertension (HP:0000822)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Hypertension (HP:0000822)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
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: SCNN1B
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Wheezing (HP:0030828)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Crackles (HP:0030830)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 (OMIM:211400)
Gene: SCNN1B
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Fatigue (HP:0012378)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Hyponatremia (HP:0002902)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB2, AUTOSOMAL RECESSIVE (OMIM:620125)
Gene: SCNN1B
Phenotype: Hypokalemia (HP:0002900)
Associated disease: LIDDLE SYNDROME 1 (OMIM:177200)
Gene: SCNN1B
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1B
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1B
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1B
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Halitosis (HP:0100812)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Clubbing (HP:0001217)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
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: SCNN1G
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 (OMIM:613071)
Gene: SCNN1G
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Hypovolemic shock (HP:0031274)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Abnormal respiratory system physiology (HP:0002795)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Nephropathy (HP:0000112)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Productive cough (HP:0031245)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Constipation (HP:0002019)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Vomiting (HP:0002013)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Vomiting (HP:0002013)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Emphysema (HP:0002097)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Dyspnea (HP:0002094)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
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: SCNN1G
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 (OMIM:613071)
Gene: SCNN1G
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
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: SCNN1G
Phenotype: Chest pain (HP:0100749)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
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: SCNN1G
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Pustule (HP:0200039)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Dehydration (HP:0001944)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Dehydration (HP:0001944)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Fever (HP:0001945)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Cachexia (HP:0004326)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Cough (HP:0012735)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 (OMIM:613071)
Gene: SCNN1G
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
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: SCNN1G
Phenotype: Hypertension (HP:0000822)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Hypertension (HP:0000822)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
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: SCNN1G
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Wheezing (HP:0030828)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Wheezing (HP:0030828)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Crackles (HP:0030830)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)
Gene: SCNN1G
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Fatigue (HP:0012378)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Autosomal recessive PHA1; Generalized pseudohypoaldosteronism type 1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Gene: SCNN1G
Phenotype: Hyponatremia (HP:0002902)
Associated disease: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE (OMIM:620126)
Gene: SCNN1G
Phenotype: Hypokalemia (HP:0002900)
Associated disease: LIDDLE SYNDROME 2 (OMIM:618114)
Gene: SCNN1G
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Gene: SCNN1G
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Idiopathic bronchiectasis (ORPHA:60033)