PRKCQ, protein kinase C theta, 5588

N. diseases: 53; N. variants: 13
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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION
phenotype Disease or Syndrome 222 3 0.010 None 1.000 1 2017 2017
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2019 2019
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 502 243 0.010 None 1.000 1 2016 2016
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2017 2017
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2012 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.110 None 1.000 2 1 2016 2019
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 1 2016 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.100 None 1.000 1 1 2016 2016
CUI: C0678202
Disease: Regional enteritis
Regional enteritis
disease Digestive System Diseases Disease or Syndrome 46 15 0.100 None 0 1
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.060 None 1.000 6 2004 2013
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 2009 2009
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.500 None 1.000 1 2016 2016
Retinal Pigment Epithelial Detachment
disease Eye Diseases Disease or Syndrome 17 3 0.300 None 1.000 1 2016 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.010 None 1.000 1 2011 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.040 None 1.000 4 2013 2019
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
disease Immune System Diseases Disease or Syndrome 447 25 0.010 None 1.000 1 2019 2019
CUI: C3714514
Disease: Infection
Infection
group Infections Pathologic Function 491 0.010 None 1.000 1 2008 2008
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.010 None 1.000 1 2019 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.100 None 1.000 1 1 2016 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2012 2012