TaoMedAI/RareMedData huggingface dataset:
Gene: KCNN4
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Hypochromia (HP:0032231)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Anemia of inadequate production (HP:0010972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Pulmonary venous hypertension (HP:0030950)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Bite cells (HP:0020122)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Schistocytosis (HP:0001981)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Polycythemia (HP:0001901)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Jaundice (HP:0000952)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Edema (HP:0000969)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Abnormal circulating potassium concentration (HP:0011042)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: KCNN4
Phenotype: Portal vein thrombosis (HP:0030242)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Episodic fatigue (HP:0012431)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNN4
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 (OMIM:616689)
Gene: KCNN4
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hereditary xerocytosis; Dehydrated hereditary stomatocytosis (ORPHA:3202)
Gene: KCNQ1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Syncope (HP:0001279)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Seizure (HP:0001250)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Macroglossia (HP:0000158)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Pancreatic hyperplasia (HP:0006277)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Congenital onset (HP:0003577)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Placental mesenchymal dysplasia (HP:0032165)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Childhood onset (HP:0011463)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Overgrowth (HP:0001548)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Diastasis recti (HP:0001540)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Omphalocele (HP:0001539)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNQ1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 1 (OMIM:192500)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 3 (OMIM:607554)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: JERVELL AND LANGE-NIELSEN SYNDROME 1 (OMIM:220400)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNQ1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNQ1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Long QT interval-hearing loss syndrome; Jervell and Lange-Nielsen syndrome; Long QT interval-deafness syndrome (ORPHA:90647)
Gene: KCNQ1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: SHORT QT SYNDROME 2 (OMIM:609621)
Gene: KCNQ1
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)