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: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		disease Acquired Abnormality 73 14 0.100 None 0 1
CUI: C0409345
Disease: Flexion contracture - wrist
Flexion contracture - wrist 		disease Acquired Abnormality 15 4 0.100 None 0 1
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2010 2010
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2015 2015
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: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 3
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		phenotype Anatomical Abnormality 6 4 0.100 None 0 1
CUI: C4022768
Disease: Cerebellar gliosis
Cerebellar gliosis 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 165 17 0.100 None 0
CUI: C0085400
Disease: Neurofibrillary degeneration (morphologic abnormality)
Neurofibrillary degeneration (morphologic abnormality) 		phenotype Cell or Molecular Dysfunction 21 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.010 None 1.000 1 2010 2010
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: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.100 None 0 1
CUI: C1862157
Disease: Proportionate shortening of all digits
Proportionate shortening of all digits 		phenotype Congenital Abnormality 4 2 0.100 None 0 1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 3 6 2019 2019
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 17 25 1.000 None 1.000 65 25 2004 2020
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.100 None 1.000 24 2006 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 1.000 18 1 2009 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.100 None 0.625 16 1 1997 2014
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 1.000 16 3 2010 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 0.929 14 1997 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.100 None 0.923 13 2006 2018