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: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.110 None 1.000 1 2007 2007
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2000 2000
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.110 None 1.000 1 2012 2012
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.110 None 1.000 1 2007 2007
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
group Eye Diseases Disease or Syndrome 714 56 0.110 None 1.000 1 2016 2016
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 12 3 0.100 None 1.000 2 1 2009 2016
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts
disease Disease or Syndrome 6 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
phenotype Finding 49 11 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy
phenotype Finding 1 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline
phenotype Finding 14 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 18 0.100 None 0
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
Segmental peripheral demyelination/remyelination
phenotype Finding 21 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0 1
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
phenotype Finding 4 0.100 None 0
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 61 4 0.100 None 0