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: C1843517
Disease: Retinal arteriolar tortuosity
Retinal arteriolar tortuosity
phenotype Finding 23 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0 1
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE
phenotype Finding 26 0.100 None 0
Cleft palate and bilateral cleft lip
disease Congenital Abnormality 18 10 0.100 None 0 1
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype Finding 87 1 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 0.100 None 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
phenotype Finding 4 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 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: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
Segmental peripheral demyelination/remyelination
phenotype Finding 21 0.100 None 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype Finding 18 0.100 None 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline
phenotype Finding 14 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: C1838868
Disease: Corticospinal tract atrophy
Corticospinal tract atrophy
phenotype Finding 1 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1837251
Disease: Basal ganglia cysts
Basal ganglia cysts
disease Disease or Syndrome 6 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 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
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
disease Nervous System Diseases Disease or Syndrome 10 1 0.300 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 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
CUI: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0