ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.400 None 1.000 2 1 2005 2007
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		disease Disease or Syndrome 1 3 0.400 None 1.000 2 3 2005 2007
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		disease Nervous System Diseases Disease or Syndrome 1 2 0.400 None 1.000 1 2 1995 1995
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		disease Disease or Syndrome 1 1 0.400 None 1.000 1 1 2014 2014
CUI: C4755299
Disease: MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6-related mitochondrial spastic paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy 		phenotype Finding 1 0.100 None 0
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		disease Finding 1 1 0.100 None 0 1
CUI: C4751573
Disease: Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with later-onset distal motor neuropathy 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2013 2013
CUI: C3275686
Disease: CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0026755
Disease: Multiple Carboxylase Deficiency
Multiple Carboxylase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2014 2014
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C3888962
Disease: POLG mutation
POLG mutation 		disease Congenital Abnormality 3 7 0.010 None 1.000 1 2018 2018
CUI: C4024895
Disease: Atrophy/Degeneration involving the caudate nucleus
Atrophy/Degeneration involving the caudate nucleus 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C0268581
Disease: Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 37 0.010 None 1.000 1 2019 2019
CUI: C4324304
Disease: MLASA syndrome
MLASA syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test 		phenotype Finding 4 0.100 None 0
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		phenotype Anatomical Abnormality 4 10 0.100 None 0 10
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts 		disease Disease or Syndrome 6 0.100 None 0
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 2 0.700 None 0.950 20 2 1990 2019
CUI: C1866180
Disease: Horizontal pendular nystagmus
Horizontal pendular nystagmus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 7 1 0.100 None 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		phenotype Anatomical Abnormality 7 1 0.100 None 0
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		disease Disease or Syndrome 8 1 0.300 None 1.000 1 2017 2017
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		disease Disease or Syndrome 9 3 0.100 None 0 1
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 0