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: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon
disease Musculoskeletal Diseases Anatomical Abnormality 8 0.100 None 0
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: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.050 None 1.000 5 2 2003 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.050 None 1.000 5 1 2006 2019
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.050 None 1.000 5 2 2003 2012
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.030 None 1.000 3 2005 2014
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases
group Nervous System Diseases Disease or Syndrome 66 4 0.020 None 1.000 2 2011 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: 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: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.110 None 1.000 1 2007 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0035333
Disease: Retinitis
Retinitis
disease Eye Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2006 2006
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: C0040997
Disease: Trigeminal Neuralgia
Trigeminal Neuralgia
disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 107 1 0.300 None 1.000 1 2016 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2014 2014
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: 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: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 moderate 1.000 1 2018 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 1 2019 2019
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
Dentatorubral-Pallidoluysian Atrophy
disease Nervous System Diseases Disease or Syndrome 95 0.010 None 1.000 1 2011 2011
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