TaoMedAI/RareMedData huggingface dataset:
Gene: KCNE2
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Palpitations (HP:0001962)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: KCNE2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: KCNE2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 6 (OMIM:613693)
Gene: KCNE2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNE2
Phenotype: Premature atrial contractions (HP:0006699)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 4 (OMIM:611493)
Gene: KCNE2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: DGCR2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Open mouth (HP:0000194)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Paranoia (HP:0011999)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Short stature (HP:0004322)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Emotional lability (HP:0000712)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Double aortic arch (HP:0011590)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Retrognathia (HP:0000278)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Microcephaly (HP:0000252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Unilateral primary pulmonary dysgenesis (HP:0006549)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR2
Phenotype: Talipes (HP:0001883)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: SCO2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Limited ankle dorsiflexion (HP:0033526)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Areflexia (HP:0001284)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Lethargy (HP:0001254)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Seizure (HP:0001250)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Ataxia (HP:0001251)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Proteinuria (HP:0000093)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hemeralopia (HP:0012047)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Abnormal calvaria morphology (HP:0002683)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Tremor (HP:0001337)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Irregular respiration (HP:0012195)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MYOPIA 6 (OMIM:608908)
Gene: SCO2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SCO2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Tachypnea (HP:0002789)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Dyspnea (HP:0002094)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Steppage gait (HP:0003376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect; Autosomal recessive axonal CMT due to copper metabolism defect (ORPHA:521411)
Gene: SCO2
Phenotype: Gliosis (HP:0002171)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Middle age onset (HP:0003596)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: SCO2
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)
Gene: SCO2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 (OMIM:604377)