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: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11 		disease Disease or Syndrome 1 3 0.700 strong 1.000 3 3 2013 2015
CUI: C4539957
Disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 		disease Disease or Syndrome 1 1 0.600 strong 1.000 2 1 2015 2017
CUI: C4551967
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY 		disease Disease or Syndrome 2 5 0.710 strong 1.000 6 5 2012 2017
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 0.010 None 1.000 1 2013 2013
CUI: C0852451
Disease: Extranodal marginal zone B-cell lymphomas (low grade B-cell)
Extranodal marginal zone B-cell lymphomas (low grade B-cell) 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 5 0.010 None 1.000 1 2006 2006
CUI: C1847973
Disease: Persistent Polyclonal B-Cell Lymphocytosis
Persistent Polyclonal B-Cell Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 0
CUI: C1333295
Disease: Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 		disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014
CUI: C0376407
Disease: Granulomatous Slack Skin
Granulomatous Slack Skin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.300 None 1.000 1 2015 2015
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 0.010 None 1.000 1 2015 2015
CUI: C0086196
Disease: Eczema, Infantile
Eczema, Infantile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 36 0.300 None 1.000 2 2012 2017
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2015 2015
CUI: C1292754
Disease: Mediastinal (Thymic) Large B-Cell Lymphoma
Mediastinal (Thymic) Large B-Cell Lymphoma 		disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 1 0.010 None 1.000 1 2014 2014
CUI: C0242172
Disease: Pelvic Inflammatory Disease
Pelvic Inflammatory Disease 		group Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 74 3 0.010 None 1.000 1 2018 2018
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.120 None 1.000 2 2002 2015
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 0.320 strong 1.000 3 2013 2018
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia 		disease Immune System Diseases Disease or Syndrome 89 4 0.010 None 1.000 1 2011 2011
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.030 None 1.000 3 2014 2018
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma 		disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 121 2 0.010 None < 0.001 1 2017 2017
CUI: C1367654
Disease: Marginal Zone B-Cell Lymphoma
Marginal Zone B-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 124 25 0.010 None 1.000 1 2002 2002
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Finding 127 14 0.100 None 0
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 133 8 0.020 None 1.000 2 2017 2018
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 134 0.300 None 1.000 1 2011 2011
CUI: C0280803
Disease: Primary central nervous system lymphoma
Primary central nervous system lymphoma 		disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 156 4 0.010 None 1.000 1 2010 2010
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2011 2011