TaoMedAI/RareMedData huggingface dataset:
Gene: MT-ND1
Phenotype: Muscle weakness (HP:0001324)
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-ND1
Phenotype: Muscle weakness (HP:0001324)
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-ND1
Phenotype: Myoclonus (HP:0001336)
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-ND1
Phenotype: Floppy infant (HP:0008947)
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-ND1
Phenotype: Proximal tubulopathy (HP:0000114)
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-ND1
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Nephropathy (HP:0000112)
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-ND1
Phenotype: Constipation (HP:0002019)
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-ND1
Phenotype: Hyperalaninemia (HP:0003348)
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-ND1
Phenotype: Diarrhea (HP:0002014)
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-ND1
Phenotype: Dysphagia (HP:0002015)
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-ND1
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Vomiting (HP:0002013)
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-ND1
Phenotype: Type II diabetes mellitus (HP:0005978)
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-ND1
Phenotype: Dyspnea (HP:0002094)
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-ND1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
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-ND1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
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-ND1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
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-ND1
Phenotype: Gait ataxia (HP:0002066)
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-ND1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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-ND1
Phenotype: Migraine (HP:0002076)
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-ND1
Phenotype: Migraine (HP:0002076)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Chorea (HP:0002072)
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-ND1
Phenotype: Hypothermia (HP:0002045)
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-ND1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
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-ND1
Phenotype: Increased circulating lactate concentration (HP:0002151)
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-ND1
Phenotype: Increased circulating lactate concentration (HP:0002151)
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-ND1
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
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-ND1
Phenotype: Generalized myoclonic seizure (HP:0002123)
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-ND1
Phenotype: Cerebral cortical atrophy (HP:0002120)
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-ND1
Phenotype: Basal ganglia calcification (HP:0002135)
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-ND1
Phenotype: Apnea (HP:0002104)
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-ND1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Postural tremor (HP:0002174)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
Phenotype: Low plasma citrulline (HP:0003572)
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-ND1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Hepatomegaly (HP:0002240)
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-ND1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Episodic respiratory distress (HP:0004885)
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-ND1
Phenotype: Exercise intolerance (HP:0003546)
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-ND1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Reduced contrast sensitivity (HP:0032036)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
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-ND1
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
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-ND1
Phenotype: Aphasia (HP:0002381)
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-ND1
Phenotype: Vitiligo (HP:0001045)
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-ND1
Phenotype: Developmental regression (HP:0002376)
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-ND1
Phenotype: EEG abnormality (HP:0002353)
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-ND1
Phenotype: Memory impairment (HP:0002354)
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-ND1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Lacticaciduria (HP:0003648)
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-ND1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
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-ND1
Phenotype: Type I diabetes mellitus (HP:0100651)
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-ND1
Phenotype: Dyskinesia (HP:0100660)
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-ND1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Peripheral neuropathy (HP:0009830)
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-ND1
Phenotype: Multiple glomerular cysts (HP:0100611)
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-ND1
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
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-ND1
Phenotype: Fluctuations in consciousness (HP:0007159)
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-ND1
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-ND1
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-ND1
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-ND1
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-ND1
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-ND1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
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-ND1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
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-ND1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND1
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-ND1
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: MT-ND1
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-ND1
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-ND1
Phenotype: Blurred vision (HP:0000622)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND1
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)