TaoMedAI/RareMedData huggingface dataset:
Gene: ANG
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANG
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: ANGPT1
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Swollen lip (HP:0031244)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Nailfold capillary tortuosity (HP:0033250)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Facial edema (HP:0000282)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT1
Phenotype: Nail bed hemorrhage (HP:0030254)
Associated disease: ANGIOEDEMA, HEREDITARY, 5 (OMIM:619361)
Gene: ANGPT2
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: LYMPHATIC MALFORMATION 10 (OMIM:619369)
Gene: ANGPT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 10 (OMIM:619369)
Gene: ANGPT2
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LYMPHATIC MALFORMATION 10 (OMIM:619369)
Gene: ANGPT2
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 10 (OMIM:619369)
Gene: ANGPT2
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANGPT2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ANK1
Phenotype: Chills (HP:0025143)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Seizure (HP:0001250)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Azoospermia (HP:0000027)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Gout (HP:0001997)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Short stature (HP:0004322)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Jaundice (HP:0000952)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Epicanthus (HP:0000286)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: High palate (HP:0000218)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Growth delay (HP:0001510)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Micrognathia (HP:0000347)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Microcornea (HP:0000482)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Anosmia (HP:0000458)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: ANK1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: 8p11.2 deletion syndrome; Del(8)(p11.2); Monosomy 8p11.2 (ORPHA:251066)
Gene: ANK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SPHEROCYTOSIS, TYPE 1 (OMIM:182900)
Gene: ANK2
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Abnormal cardiac exercise stress test (HP:0500018)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: ANK2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Gene: ANK2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Bruxism (HP:0003763)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Bruxism (HP:0003763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Seizure (HP:0001250)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Hypotonia (HP:0001252)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Spasticity (HP:0001257)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
Gene: ANK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
Gene: ANK3
Phenotype: Large for gestational age (HP:0001520)
Associated disease: ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)