RAG1, recombination activating 1, 5896

N. diseases: 209; N. variants: 59
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: 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 0.800 strong 0.978 46 34 1998 2018
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 0.952 42 5 2000 2019
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 32 0.700 strong 1.000 19 19 1996 2015
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 19 0.700 strong 1.000 18 16 1998 2015
CUI: C0009319
Disease: Colitis
Colitis 		disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 1.000 15 2004 2020
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 1993 2016
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 86 11 0.150 None 1.000 5 2013 2019
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23 0.050 None 1.000 5 1996 2017
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.040 None 0.750 4 1993 2017
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		disease Immune System Diseases Disease or Syndrome 207 85 0.030 None 1.000 3 2014 2015
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.030 None 1.000 3 1993 1994
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.320 None 1.000 3 2017 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.030 None 1.000 3 1993 2017
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 5 6 0.030 None 1.000 3 1 2008 2015
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.030 None 1.000 3 1993 2011
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		disease Immune System Diseases Disease or Syndrome 89 4 0.030 None 1.000 3 2014 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2011 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2011 2018
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 865 7 0.020 None 1.000 2 2013 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.020 None 1.000 2 1992 1992
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 620 64 0.020 None 1.000 2 2017 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.020 None 1.000 2 1994 2003
CUI: C0027059
Disease: Myocarditis
Myocarditis 		disease Cardiovascular Diseases Disease or Syndrome 285 2 0.020 None 0.500 2 2004 2006
CUI: C0036690
Disease: Septicemia
Septicemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1285 141 0.020 None 1.000 2 1 2009 2015
CUI: C0085652
Disease: Pyoderma Gangrenosum
Pyoderma Gangrenosum 		disease Skin and Connective Tissue Diseases Disease or Syndrome 47 2 0.020 None 1.000 2 2014 2015