TaoMedAI/RareMedData huggingface dataset:
Gene: ANK3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ANK3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC25A4
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Lethargy (HP:0001254)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Inability to walk (HP:0002540)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Nocturia (HP:0000017)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Constipation (HP:0002019)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Dyspnea (HP:0002094)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Adult onset (HP:0003581)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Focal white matter lesions (HP:0007042)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Facial palsy (HP:0010628)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Facial palsy (HP:0010628)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Multiple mitochondrial DNA deletions (HP:0003689)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Progressive (HP:0003676)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Headache (HP:0002315)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Palpitations (HP:0001962)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Ketosis (HP:0001946)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Organic aciduria (HP:0001992)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Goiter (HP:0000853)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Edema (HP:0000969)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Obesity (HP:0001513)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Fatigue (HP:0012378)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Heart murmur (HP:0030148)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184)
Gene: SLC25A4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 (OMIM:609283)
Gene: SLC25A4
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)
Gene: SLC25A4
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: SLC25A4
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: SLC25A4
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418)