PRKCB, protein kinase C beta, 5579

N. diseases: 317; N. variants: 18
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: C1865926
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 2001 2001
CUI: C1854181
Disease: FIBROMATOSIS, GINGIVAL, 2
FIBROMATOSIS, GINGIVAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C4021885
Disease: Atrial cardiomyopathy
Atrial cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2020 2020
CUI: C0332886
Disease: Coarctation
Coarctation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 8 0.010 None 1.000 1 2019 2019
CUI: C0015929
Disease: Fetal Diseases
Fetal Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 11 0.200 None 1.000 1 2004 2004
CUI: C4019167
Disease: Speech Sound Disorders
Speech Sound Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 11 0.010 None 1.000 1 2015 2015
CUI: C1333500
Disease: Extragastrointestinal Gastrointestinal Stromal Tumor
Extragastrointestinal Gastrointestinal Stromal Tumor 		disease Digestive System Diseases; Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2012 2012
CUI: C3888552
Disease: Autoimmune colitis
Autoimmune colitis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2014 2014
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2016 2016
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 15 0.010 None 1.000 1 2001 2001
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		disease Disease or Syndrome 17 8 0.010 None 1.000 1 2005 2005
CUI: C0267176
Disease: Gastroparesis with diabetes mellitus
Gastroparesis with diabetes mellitus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2020 2020
CUI: C0349489
Disease: Fetal Hypoxia
Fetal Hypoxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 21 2 0.010 None 1.000 1 2020 2020
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 21 24 0.010 None 1.000 1 2016 2016
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		disease Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 22 0.010 None 1.000 1 2020 2020
CUI: C2827362
Disease: Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 		disease Neoplastic Process 22 0.010 None 1.000 1 2015 2015
CUI: C3495488
Disease: Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 22 7 0.010 None 1.000 1 2005 2005
CUI: C0206644
Disease: Histiocytoma, Benign Fibrous
Histiocytoma, Benign Fibrous 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2015 2015
CUI: C0276501
Disease: Human immunodeficiency virus II infection
Human immunodeficiency virus II infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 2010 2010
CUI: C0854094
Disease: HIV-2 infection
HIV-2 infection 		disease Infections; Immune System Diseases Disease or Syndrome 30 1 0.010 None 1.000 1 2010 2010
CUI: C1442837
Disease: Myocardial necrosis
Myocardial necrosis 		disease Cardiovascular Diseases Disease or Syndrome 30 2 0.010 None 1.000 1 2017 2017
CUI: C1855520
Disease: Hyperglycemia, Postprandial
Hyperglycemia, Postprandial 		phenotype Nutritional and Metabolic Diseases Finding 37 0.300 None 1.000 1 2007 2007
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		disease Cardiovascular Diseases Disease or Syndrome 41 60 0.010 None 1.000 1 2007 2007
CUI: C0264886
Disease: Conduction disorder of the heart
Conduction disorder of the heart 		group Cardiovascular Diseases Disease or Syndrome 41 11 0.010 None 1.000 1 2009 2009
CUI: C0574143
Disease: Liver calculus
Liver calculus 		disease Disease or Syndrome 45 0.010 None 1.000 1 2018 2018