JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.010 None 1.000 1 2018 2018
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.700 strong 1.000 45 6 1995 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.100 None 0.923 13 2011 2020
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.090 None 1.000 9 2005 2020
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 38 42 0.080 None 1.000 8 1994 2018
CUI: C1833275
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 5 0.600 None 1.000 6 5 1995 2004
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.060 None 1.000 6 2004 2019
CUI: C0259743
Disease: Autosomal recessive SCID
Autosomal recessive SCID 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 2 0.050 None 1.000 5 1996 2018
CUI: C0451694
Disease: Severe combined immunodeficiency with low or normal B-cell numbers
Severe combined immunodeficiency with low or normal B-cell numbers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 2 0.200 None 1.000 4 1995 2000
CUI: C1837028
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 14 0.200 None 1.000 4 1995 2000
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.030 None 1.000 3 2002 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.030 None 1.000 3 2007 2008
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.030 None 1.000 3 2001 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.030 None 1.000 3 1 2016 2018
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.020 None 1.000 2 2015 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2 2009 2015
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.020 None 1.000 2 2013 2015
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease Immune System Diseases Disease or Syndrome 447 25 0.210 None 1.000 2 2002 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.020 None 1.000 2 2013 2019
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.020 None 1.000 2 1997 2004
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 1.000 2 2015 2019
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.020 None 1.000 2 1998 2017
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 24 0.300 None 1.000 2 2004 2005