TaoMedAI/RareMedData huggingface dataset:
Gene: KCNH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SHORT QT SYNDROME 1 (OMIM:609620)
Gene: KCNH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Bradycardia (HP:0001662)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNH2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNH2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNH2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: KCNJ1
Phenotype: Tetany (HP:0001281)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Seizure (HP:0001250)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Low-to-normal blood pressure (HP:0002632)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Renal potassium wasting (HP:0000128)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Polyuria (HP:0000103)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Constipation (HP:0002019)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Diarrhea (HP:0002014)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Vomiting (HP:0002013)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Paresthesia (HP:0003401)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Increased serum prostaglandin E2 (HP:0003566)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hyperprostaglandinuria (HP:0003527)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Dehydration (HP:0001944)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Fever (HP:0001945)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Polydipsia (HP:0001959)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Short stature (HP:0004322)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hypochloremia (HP:0003113)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hyperchloriduria (HP:0002914)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Hypokalemia (HP:0002900)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Triangular face (HP:0000325)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Premature birth (HP:0001622)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Macrotia (HP:0000400)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Gene: KCNJ2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Short mandibular rami (HP:0003778)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Antegonial notching of mandible (HP:0003779)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Periodic hyperkalemic paralysis (HP:0007215)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Syncope (HP:0001279)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Syncope (HP:0001279)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Syncope (HP:0001279)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Syncope (HP:0001279)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Seizure (HP:0001250)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNJ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Scoliosis (HP:0002650)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Cleft palate (HP:0000175)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Scapular winging (HP:0003691)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Prominent U wave (HP:0025072)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Prominent U wave (HP:0025072)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Small hand (HP:0200055)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Small hand (HP:0200055)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Short metatarsal (HP:0010743)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Short palm (HP:0004279)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Palpitations (HP:0001962)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNJ2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Dental crowding (HP:0000678)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Oligodontia (HP:0000677)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Oligodontia (HP:0000677)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Mildly reduced left ventricular ejection fraction (HP:0012663)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short stature (HP:0004322)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Short stature (HP:0004322)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Presyncope (HP:0031972)
Associated disease: SHORT QT SYNDROME 3 (OMIM:609622)
Gene: KCNJ2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: KCNJ2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KCNJ2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Gene: KCNJ2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Long QT syndrome type 7; LQT7; Andersen-Tawil syndrome; Andersen syndrome (ORPHA:37553)
Gene: KCNJ2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KCNJ2
Phenotype: Depression (HP:0000716)
Associated disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)