TaoMedAI/RareMedData huggingface dataset:
Gene: KCNJ2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Slender long bone (HP:0003100)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Malar flattening (HP:0000272)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Bidirectional ventricular ectopy (HP:0005147)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Bidirectional ventricular ectopy (HP:0005147)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: High palate (HP:0000218)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: High palate (HP:0000218)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Small finger (HP:0030033)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Growth abnormality (HP:0001507)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Growth delay (HP:0001510)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Broad forehead (HP:0000337)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Micrognathia (HP:0000347)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Bradycardia (HP:0001662)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Triangular face (HP:0000325)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Triangular face (HP:0000325)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Short foot (HP:0001773)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Short foot (HP:0001773)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Prominent frontal sinuses (HP:0005478)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ3
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ3
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Periodic hyperkalemic paralysis (HP:0007215)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Syncope (HP:0001279)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Seizure (HP:0001250)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNJ5
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Nausea (HP:0002018)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Headache (HP:0002315)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Prominent U wave (HP:0025072)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Small hand (HP:0200055)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Palpitations (HP:0001962)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Palpitations (HP:0001962)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Polydipsia (HP:0001959)
Associated disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Gene: KCNJ5
Phenotype: Polydipsia (HP:0001959)
Associated disease: Familial hyperaldosteronism type III; FH-III; Familial hyperaldosteronism type 3; FH3 (ORPHA:251274)
Gene: KCNJ5
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ5
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: LONG QT SYNDROME 13 (OMIM:613485)
Gene: KCNJ5
Phenotype: Dental crowding (HP:0000678)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Oligodontia (HP:0000677)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ5
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)