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: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A
disease Disease or Syndrome 1 1 0.700 1 1 2011 2011
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B
disease Disease or Syndrome 1 1 0.600 3 1 2011 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1105 745 0.380 0.875 8 2009 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.320 0.500 2 2013 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 574 71 0.320 1.000 2 2014 2018
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 2013 2013
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
Multiple Sclerosis, Acute Fulminating
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 43 10 0.300 1 2009 2009
Myelocytic leukemia-like syndrome, familial, chronic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 1 0.200 1 1996 1996
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1119 228 0.110 1.000 4 3 2011 2013
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 640 10 0.110 1.000 1 1999 1999
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 154 573 0.100 2 6 2013 2017
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
group Hemic and Lymphatic Diseases Disease or Syndrome 90 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 0
Abnormality of immune system physiology
phenotype Pathologic Function 23 0.100 0
CUI: C0239998
Disease: Recurrent infections
Recurrent infections
phenotype Finding 67 1 0.100 0
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 223 429 0.100 1 1 2017 2017
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 200 419 0.100 1 1 2017 2017
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 154 573 0.100 2 6 2013 2017
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 109 201 0.100 1 2 2017 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 875 64 0.100 1.000 11 1998 2014
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 155 124 0.100 1 1 2012 2012
CUI: C0750879
Disease: Eosinophil count result
Eosinophil count result
phenotype Laboratory or Test Result 200 419 0.100 1 1 2017 2017
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.100 1 1 2013 2013