PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
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: C0270871
Disease: Facial Myokymia
Facial Myokymia 		phenotype Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C0270749
Disease: Marie Cerebellar Ataxia
Marie Cerebellar Ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2012 2012
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 29 0.800 None 0.960 25 29 2002 2019
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon 		disease Musculoskeletal Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		phenotype Finding 9 0.100 None 0
CUI: C0393786
Disease: Trigeminal Neuralgia, Idiopathic
Trigeminal Neuralgia, Idiopathic 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0393787
Disease: Secondary Trigeminal Neuralgia
Secondary Trigeminal Neuralgia 		disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		phenotype Finding 19 1 0.100 None 0
CUI: C0035333
Disease: Retinitis
Retinitis 		disease Eye Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2006 2006
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype Finding 22 5 0.100 None 0
CUI: C0948343
Disease: Transfusion-Related Acute Lung Injury
Transfusion-Related Acute Lung Injury 		disease Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2017 2017
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.010 None 1.000 1 2002 2002
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.050 None 1.000 5 2 2003 2012
CUI: C2938905
Disease: Central Nervous System Sensitization
Central Nervous System Sensitization 		disease Disease or Syndrome 32 1 0.010 None 1.000 1 2017 2017
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 0
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2010 2010
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 36 9 0.010 None 1.000 1 2009 2009
CUI: C1960870
Disease: Transformed migraine
Transformed migraine 		disease Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2017 2017
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 1.000 1 2010 2010
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		disease Mental Disorders Mental or Behavioral Dysfunction 56 5 0.010 None 1.000 1 2007 2007
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.300 None 1.000 1 2010 2010
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.020 None 1.000 2 2011 2014