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: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 15 0.740 None 1.000 9 15 2006 2019
CUI: C2750220
Disease: Karak Syndrome
Karak Syndrome 		disease Nervous System Diseases Disease or Syndrome 1 1 0.140 None 1.000 4 1 2010 2017
CUI: C1608971
Disease: Optic nerve pallor
Optic nerve pallor 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2014 2014
CUI: C0239957
Disease: Hip stiff
Hip stiff 		phenotype Sign or Symptom 1 0.100 None 0
CUI: C4022743
Disease: T2 hypointense basal ganglia
T2 hypointense basal ganglia 		phenotype Finding 1 1 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: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		disease Nervous System Diseases Disease or Syndrome 2 7 0.760 strong 0.917 12 7 2006 2019
CUI: C3280371
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 		disease Disease or Syndrome 2 18 0.010 None 1.000 1 2015 2015
CUI: C1837407
Disease: Ankle contracture
Ankle contracture 		phenotype Finding 3 3 0.100 None 0 1
CUI: C4021076
Disease: Iron accumulation in brain
Iron accumulation in brain 		phenotype Finding 3 38 0.100 None 0 37
CUI: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		phenotype Finding 3 2 0.100 None 0 1
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		phenotype Finding 4 1 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: C1142448
Disease: Apraxia of eyelid
Apraxia of eyelid 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		disease Nervous System Diseases Disease or Syndrome 6 2 0.020 None 1.000 2 2011 2017
CUI: C1868251
Disease: Neonatal alloimmune thrombocytopenia (NAIT)
Neonatal alloimmune thrombocytopenia (NAIT) 		disease Disease or Syndrome 6 0.010 None 1.000 1 1994 1994
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		phenotype Anatomical Abnormality 6 4 0.100 None 0 1
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		group Nervous System Diseases Disease or Syndrome 7 1 0.100 None 1.000 10 2006 2018
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 11, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 134 0.010 None 1.000 1 2010 2010
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: C2748610
Disease: Progressive extrapyramidal movement disorder
Progressive extrapyramidal movement disorder 		phenotype Finding 9 0.100 None 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease Disease or Syndrome 9 7 0.100 None 0 1
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2016 2016
CUI: C0270500
Disease: Coprophilia (disorder)
Coprophilia (disorder) 		disease Mental Disorders Mental or Behavioral Dysfunction 12 0.010 None 1.000 1 2014 2014
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2010 2010