TaoMedAI/RareMedData huggingface dataset:
Gene: MT-TL1
Phenotype: Erythema (HP:0010783)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Diplopia (HP:0000651)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Fever (HP:0001945)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Fever (HP:0001945)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Anemia (HP:0001903)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Short stature (HP:0004322)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Short stature (HP:0004322)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Short stature (HP:0004322)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Short stature (HP:0004322)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Intestinal pseudo-obstruction (HP:0004389)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Personality changes (HP:0000751)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Anxiety (HP:0000739)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Short attention span (HP:0000736)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Depression (HP:0000716)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Depression (HP:0000716)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Dementia (HP:0000726)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Dementia (HP:0000726)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Psychosis (HP:0000709)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Widened cerebral subarachnoid space (HP:0012766)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Abnormal central motor function (HP:0011442)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Myopathy (HP:0003198)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Myopathy (HP:0003198)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Abnormality of Krebs cycle metabolism (HP:0000816)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: mtDNA-related progressive external ophthalmoplegia; Maternally-inherited CPEO; Maternally-inherited chronic progressive external ophthalmoplegia; Mitochondrial DNA-related progressive external ophthalmoplegia (ORPHA:663)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Growth abnormality (HP:0001507)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Hemianopia (HP:0012377)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation; Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
Gene: MT-TL1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Gene: MT-TL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-TL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-TL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-TL1
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-TL1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-TL1
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)