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: 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
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: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.500 strong 1.000 2 2004 2005
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 159 15 0.460 None 1.000 6 6 2006 2011
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.400 None 1.000 4 1 2010 2014
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 644 23 0.350 None 1.000 5 1 2008 2019
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.340 None 1.000 4 2010 2018
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.330 None 1.000 3 2008 2015
Nasal Type Extranodal NK/T-Cell Lymphoma
disease Neoplasms Neoplastic Process 53 0.320 None 1.000 4 2012 2019
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 179 70 0.320 None 1.000 2 2013 2016
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.310 None 1.000 2 2014 2018
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell
disease Neoplasms Neoplastic Process 33 2 0.300 None 1.000 2 2012 2014
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
Amyotrophic Lateral Sclerosis, Sporadic
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 173 90 0.300 None 1.000 1 2002 2002
Amyotrophic Lateral Sclerosis, Familial
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.300 None 1.000 1 2002 2002
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.300 None 1.000 1 2002 2002
CUI: C0153504
Disease: Malignant tumor of mediastinum
Malignant tumor of mediastinum
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 0.300 None 1.000 1 2014 2014
CUI: C0025063
Disease: Mediastinal Neoplasms
Mediastinal Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 9 0.300 None 1.000 1 2014 2014
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.300 None 0
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
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
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: C0020429
Disease: Hyperalgesia
Hyperalgesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.200 None 1.000 1 2011 2011
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.200 None 1.000 1 2013 2013
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.200 None 1.000 1 2016 2016