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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 13 1 2005 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 11 1 2004 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.090 None 1.000 9 2005 2019
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: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.080 None 1.000 8 2008 2018
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 367 5 0.070 None 1.000 7 2006 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.060 None 1.000 6 2002 2015
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.060 None 1.000 6 2004 2019
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: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		disease Neoplasms Neoplastic Process 159 15 0.460 None 1.000 6 6 2006 2011
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.050 None 1.000 5 2002 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.050 None 1.000 5 2010 2018
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
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: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.050 None 1.000 5 2009 2020
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: 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
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: 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
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 4 0.040 None 1.000 4 2014 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.040 None 1.000 4 2002 2015
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.040 None 1.000 4 2007 2012
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: C0392788
Disease: Nasal Type Extranodal NK/T-Cell Lymphoma
Nasal Type Extranodal NK/T-Cell Lymphoma 		disease Neoplasms Neoplastic Process 53 0.320 None 1.000 4 2012 2019