TaoMedAI/RareMedData huggingface dataset:
Gene: MT-ATP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Blindness (HP:0000618)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Blindness (HP:0000618)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
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-ATP6
Phenotype: Blurred vision (HP:0000622)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Central scotoma (HP:0000603)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
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-ATP6
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Short stature (HP:0004322)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Irritability (HP:0000737)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Dementia (HP:0000726)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Dementia (HP:0000726)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Myopathy (HP:0003198)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Myopathy (HP:0003198)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Myopathy (HP:0003198)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
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-ATP6
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Central retinal vessel vascular tortuosity (HP:0007768)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
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-ATP6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Horizontal pendular nystagmus (HP:0007811)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
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-ATP6
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
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-ATP6
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
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-ATP6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Cardiac conduction abnormality (HP:0031546)
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-ATP6
Phenotype: Infantile spasms (HP:0012469)
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-ATP6
Phenotype: Retinopathy (HP:0000488)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Basal ganglia cysts (HP:0006799)
Associated disease: Familial infantile bilateral striatal necrosis; Familial infantile striatonigral degeneration; Familial IBSN; Familial infantile striatonigral necrosis (ORPHA:225154)
Gene: MT-ATP6
Phenotype: Cataract (HP:0000518)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Rod-cone dystrophy (HP:0000510)
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-ATP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA (OMIM:551500)
Gene: MT-ATP6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP6
Phenotype: Ophthalmoparesis (HP:0000597)
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-ATP6
Phenotype: Pigmentary retinopathy (HP:0000580)
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-ATP6
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ATP6
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ATP6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: Maternally-inherited spastic paraplegia; MT-ATP6-related mitochondrial spastic paraplegia; Maternally-inherited SPG (ORPHA:320360)
Gene: MT-ATP6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Neuropathy-ataxia-retinitis pigmentosa syndrome; Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome; NARP syndrome (ORPHA:644)
Gene: MT-ATP8
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Motor delay (HP:0001270)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Seizure (HP:0001250)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Ataxia (HP:0001251)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Dysarthria (HP:0001260)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Dystonia (HP:0001332)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Tremor (HP:0001337)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Dysphagia (HP:0002015)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Progressive intervertebral space narrowing (HP:0004622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Short stature (HP:0004322)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Short stature (HP:0004322)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Dementia (HP:0000726)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Isolated mitochondrial respiratory chain complex V deficiency; Isolated ATP synthase deficiency (ORPHA:254913)
Gene: MT-ATP8
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: MT-ATP8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)