RAG2, recombination activating 2, 5897

N. diseases: 207; N. variants: 44
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: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.050 None 1.000 5 2008 2013
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 2009 2010
CUI: C0477324
Disease: Other combined immunodeficiencies
Other combined immunodeficiencies 		disease Disease or Syndrome 1 0.200 None 1.000 1 2007 2007
CUI: C0742597
Disease: colon (non-specific) lesion
colon (non-specific) lesion 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C1262091
Disease: Lymphocytic infiltration
Lymphocytic infiltration 		disease Disease or Syndrome 84 2 0.010 None 1.000 1 1994 1994
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2010 2010
CUI: C2721713
Disease: Disseminated BCG
Disseminated BCG 		disease Disease or Syndrome 4 0.010 None 1.000 1 2009 2009
CUI: C4524092
Disease: Chronic rhinosinusitis with nasal polyps
Chronic rhinosinusitis with nasal polyps 		disease Neoplastic Process 168 1 0.010 None 1.000 1 2013 2013
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.010 None 1.000 1 2012 2012
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		phenotype Finding 7 0.100 None 0
CUI: C1836195
Disease: Short toe
Short toe 		phenotype Finding 56 3 0.100 None 0
CUI: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		phenotype Finding 14 0.100 None 0
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		phenotype Finding 10 2 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		phenotype Finding 6 1 0.100 None 0
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		disease Finding 2 7 0.400 strong 0 5
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype Finding 137 0.100 None 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		phenotype Finding 3 0.100 None 0
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		phenotype Finding 2 0.100 None 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		phenotype Finding 2 0.100 None 0