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.
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.100 None 1.000 11 1986 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
disease Disease or Syndrome 695 94 0.100 None 1.000 10 1999 2013
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.060 None 1.000 6 2014 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.060 None 1.000 6 1 2002 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.050 None 0.800 5 1 1988 2019
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
disease Disease or Syndrome 15 2 0.340 None 1.000 5 2008 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 0.500 4 1980 2009
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.030 None 1.000 3 2005 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 1991 2009
CUI: C4290046
Disease: trachomatis
trachomatis
disease Disease or Syndrome 175 7 0.020 None 0.500 2 2001 2016
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 1990 2003
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 1990 2003
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 1990 2003
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 1990 2003
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 1990 2003
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2016 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 2 2012 2012
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 2 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 2 2016 2016
CUI: C0201910
Disease: Beta-2-microglobulin measurement
Beta-2-microglobulin measurement
phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2013 2013