PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0 1
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C0085633
Disease: Mood swings
Mood swings 		disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.100 None 0
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 14 1 0.100 None 0 1
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive 		phenotype Finding 38 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0152237
Disease: Talipes Calcaneovalgus
Talipes Calcaneovalgus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 37 3 0.100 None 0 1
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		phenotype Finding 3 3 0.100 None 0 1
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype Finding 159 25 0.100 None 0
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.100 None 0 1
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0 1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0 2
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0 1
CUI: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		phenotype Nervous System Diseases Finding 21 2 0.100 None 0
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype Finding 37 0.100 None 0
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		phenotype Finding 4 1 0.100 None 0 1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0 1
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0