TaoMedAI/RareMedData huggingface dataset:
Gene: CIROP
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Left Isomerism (HP:0031854)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Congenitally corrected transposition of the great arteries (HP:0011540)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Double aortic arch (HP:0011590)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Common atrium (HP:0011565)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Double inlet right ventricle (HP:0011556)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Discordant atrioventricular connection (HP:0011553)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Single coronary artery origin (HP:0011640)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Left superior vena cava draining to coronary sinus (HP:0011670)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Dextrotransposition of the great arteries (HP:0031348)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Abdominal situs ambiguus (HP:0031565)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: CIROP
Phenotype: Single ventricle (HP:0001750)
Associated disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Gene: ZBTB42
Phenotype: Absence of stomach bubble on fetal sonography (HP:0010963)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Antenatal onset (HP:0030674)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Congenital contracture (HP:0002803)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: ZBTB42
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Gene: PET100
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Poor head control (HP:0002421)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Clonus (HP:0002169)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Death in adolescence (HP:0011421)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: PET100
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Gene: KCNJ18
Phenotype: Myotonia (HP:0002486)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Periodic paralysis (HP:0003768)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Episodic flaccid weakness (HP:0003752)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Areflexia (HP:0001284)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Urinary retention (HP:0000016)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Tremor (HP:0001337)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Tremor (HP:0001337)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Constipation (HP:0002019)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Periodic hypokalemic paresis (HP:0008153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Thyrotoxicosis with diffuse goiter (HP:0011784)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Thyrotoxicosis with toxic multinodular goiter (HP:0011785)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Thyrotoxicosis with toxic single thyroid nodule (HP:0011786)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Paralysis (HP:0003470)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Transient hypophosphatemia (HP:0008285)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Middle age onset (HP:0003596)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Late-onset proximal muscle weakness (HP:0003694)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Graves disease (HP:0100647)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Palpitations (HP:0001962)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Exercise-induced muscle fatigue (HP:0009020)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Episodic hypokalemia (HP:0012726)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Young adult onset (HP:0011462)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Goiter (HP:0000853)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Obesity (HP:0001513)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Decreased urinary potassium (HP:0012364)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Hypokalemia (HP:0002900)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Tachycardia (HP:0001649)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Impaired myocardial contractility (HP:0006670)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Weight loss (HP:0001824)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KCNJ18
Phenotype: Weight loss (HP:0001824)
Associated disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Gene: KCNJ18
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Thyrotoxic hypokalemic periodic paralysis; Thyrotoxic periodic paralysis (ORPHA:79102)
Gene: KLLN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Seizure (HP:0001250)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Ataxia (HP:0001251)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Bone cyst (HP:0012062)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Lipoma (HP:0012032)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Neoplasm (HP:0002664)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Macroglossia (HP:0000158)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Dysplastic gangliocytoma of the cerebellum (HP:0500009)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Hamartoma (HP:0010566)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Conjunctival hamartoma (HP:0100780)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Adenoma sebaceum (HP:0009720)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Fibroma (HP:0010614)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Papule (HP:0200034)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: COWDEN SYNDROME 4 (OMIM:615107)
Gene: KLLN
Phenotype: Hamartomatous polyposis (HP:0004390)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)
Gene: KLLN
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Multiple hamartoma syndrome; Cowden disease; Cowden syndrome (ORPHA:201)