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: 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: C3554686
Disease: IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11 		disease Disease or Syndrome 1 3 0.700 strong 1.000 3 3 2013 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2015 2018
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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
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: 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: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 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: 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: 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 0.020 None 1.000 2 2013 2019
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: 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: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.440 None 1.000 4 2012 2019
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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2018 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: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1188 274 0.010 None 1.000 1 2018 2018
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: C0024282
Disease: Lymphocytosis
Lymphocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.120 None 1.000 2 2002 2015
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.010 None 1.000 1 2019 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.100 None 0
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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2018 2018