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: C2931299
Disease: ZAP70 deficiency
ZAP70 deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 4 8 0.730 strong 1.000 8 8 1994 2019
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
disease Disease or Syndrome 82 132 0.700 None 1.000 2 2 2016 2016
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 0.600 None 0.846 13 1 1994 2017
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 0.420 strong 1.000 2 2 2017 2017
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 0.320 None 1.000 3 1994 2012
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.310 None 1.000 2 1994 2008
Structural Clinical Interview for DSM-III
phenotype Diagnostic Procedure 5 0.300 moderate 1.000 1 2016 2016
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 24 0.300 None 1.000 1 1994 1994
CUI: C2931320
Disease: T cell immunodeficiency primary
T cell immunodeficiency primary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 0.300 None 1.000 1 1994 1994
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 2008 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.240 None 1.000 6 2003 2019
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.140 None 1.000 4 2004 2007
CUI: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders
group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 14 0.130 None 1.000 3 2004 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.110 None 1.000 2 1 2016 2017
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 78 1 0.110 None 1.000 1 2007 2007
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.110 None 1.000 1 2006 2006
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.110 None 1.000 1 2009 2009
CUI: C0013595
Disease: Eczema
Eczema
disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.110 None 1.000 1 2009 2009
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.100 None 0.977 175 2002 2019
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE
disease Neoplastic Process 350 19 0.100 None 0.958 24 2003 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 0.882 17 2004 2018
CUI: C4275079
Disease: Posterior cortical atrophy syndrome
Posterior cortical atrophy syndrome
disease Disease or Syndrome 12 8 0.100 None 1.000 1 1 2016 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 2 2017 2017
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
Severe combined immunodeficiency, atypical
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 5 6 0.100 None 0 4