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.
Abnormal basal ganglia MRI signal intensity
phenotype Anatomical Abnormality 7 1 0.100 None 0
Atrophy/Degeneration involving the caudate nucleus
phenotype Anatomical Abnormality 3 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: C3888962
Disease: POLG mutation
POLG mutation
disease Congenital Abnormality 3 7 0.010 None 1.000 1 2018 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 154 23 0.100 None 0 2
CUI: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0 1
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 0 1
Cleft palate and bilateral cleft lip
disease Congenital Abnormality 18 10 0.100 None 0 1
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: 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
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: 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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.070 None 0.857 7 2007 2019
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: 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: 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: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 53 11 0.030 None 1.000 3 2005 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.020 None 1.000 2 2007 2008
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.020 None 1.000 2 2006 2020
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 59 13 0.020 None 1.000 2 2012 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 1.000 2 2014 2019
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 12 3 0.100 None 1.000 2 1 2009 2016