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: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18
disease Disease or Syndrome 2 2 0.600 definitive 7 2 1991 2015
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
disease Disease or Syndrome 1 1 0.600 definitive 6 1 1991 2015
CUI: C3810129
Disease: IMMUNODEFICIENCY 18, SCID VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT
disease Disease or Syndrome 1 0.500 definitive 6 1991 2015
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.410 1.000 2 1993 2011
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 216 30 0.320 1.000 3 2004 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 31 31 0.310 1.000 2 2004 2012
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.300 1 2016 2016
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 21 0.300 1 2004 2004
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1832 1878 0.300 1 2004 2004
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 59 0.300 1 2016 2016
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 22 0.300 1 1993 1993
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 428 18 0.300 1 2012 2012
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
disease Disease or Syndrome 76 0.100 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Finding 212 0.100 0
CUI: C4477053
Disease: Decreased number of CD3+ T cells
Decreased number of CD3+ T cells
phenotype Finding 1 0.100 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1059 141 0.030 0.667 3 1991 2014
Experimental Organism Basal Cell Carcinoma
phenotype Neoplastic Process 281 33 0.010 1.000 1 2012 2012
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.010 1.000 1 1998 1998
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.010 1.000 1 1987 1987
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency
disease Disease or Syndrome 7 2 0.010 1.000 1 1995 1995
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.010 1.000 1 2016 2016
CUI: C1845609
Disease: Lymphoid depletion
Lymphoid depletion
disease Disease or Syndrome 3 0.010 1.000 1 1991 1991
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.010 1.000 1 2013 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.010 1.000 1 2013 2013
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1347 175 0.010 1 2005 2005