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: 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: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.650 None 1.000 6 3 1995 2019
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 1 0.540 None 1.000 6 2007 2019
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.500 None 1.000 45 11 1990 2020
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: 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: 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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.400 None 1.000 1 2008 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2014 2014
CUI: C0020564
Disease: Hypertrophy
Hypertrophy 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 18 0.300 None 1.000 1 2008 2008
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: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.300 None 1.000 1 2008 2008
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: 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: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 0
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 1 2010 2010
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.180 None 0.875 8 5 1998 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.170 None 0.875 8 1 2007 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.140 None 1.000 4 1 2007 2017
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.130 None 1.000 6 10 2007 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.110 None 1.000 1 2017 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.110 None 1.000 1 2007 2007
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.110 None 1.000 1 2000 2000
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.110 None 1.000 1 2000 2000