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.
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.050 None 1.000 5 2 2003 2012
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
Central Nervous System Sensitization
disease Disease or Syndrome 32 1 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: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy
phenotype Finding 32 6 0.100 None 0
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs
phenotype Finding 19 1 0.100 None 0
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit
phenotype Finding 22 5 0.100 None 0
Impaired vibration sensation at ankles
phenotype Finding 9 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0
phenotype Finding 108 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.010 None 1.000 1 2 2007 2007
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.030 None 1.000 3 2005 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None < 0.001 1 2017 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 1 2006 2006
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None 1.000 1 1989 1989
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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.370 None 1.000 8 2003 2010
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
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: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.300 None 1.000 1 2010 2010
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 76 3 0.300 None 1.000 1 2010 2010