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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.060 None 1.000 6 1995 2007
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.050 None 1.000 5 1992 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 3 4 2015 2019
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.030 None 1.000 3 1997 2017
CUI: C1321756
Disease: Achalasia
Achalasia
disease Disease or Syndrome 40 5 0.020 None 1.000 2 2014 2019
CUI: C3826457
Disease: Diabetes in children
Diabetes in children
disease Disease or Syndrome 22 2 0.020 None 1.000 2 1998 2001
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
disease Disease or Syndrome 133 54 0.020 None 1.000 2 2003 2019
CUI: C0018129
Disease: Graft Rejection
Graft Rejection
phenotype Organ or Tissue Function 47 0.200 None 1.000 1 1992 1992
CUI: C0201278
Disease: Antibody measurement (procedure)
Antibody measurement (procedure)
group Laboratory Procedure 5 8 0.100 None 1.000 1 1 2013 2013
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes
disease Disease or Syndrome 6 3 0.010 None 1.000 1 2002 2002
CUI: C0349637
Disease: Common acute lymphoblastic leukemia
Common acute lymphoblastic leukemia
disease Neoplastic Process 43 0.010 None 1.000 1 1996 1996
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.010 None 1.000 1 2002 2002
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.010 None 1.000 1 1998 1998
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 2012 2012
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom
phenotype Sign or Symptom 86 21 0.010 None 1.000 1 2018 2018
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2008 2008
CUI: C1141957
Disease: HIV disease progression
HIV disease progression
disease Disease or Syndrome 54 5 0.010 None < 0.001 1 1997 1997
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement
phenotype Laboratory Procedure 26 36 0.100 None 1.000 1 1 2017 2017
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement
phenotype Laboratory Procedure 17 25 0.100 None 1.000 1 1 2017 2017
Autoimmune Hepatitis with Centrilobular Necrosis
disease Disease or Syndrome 6 3 0.100 None 1.000 1 1 2018 2018
Hepatitis B Virus-Related Hepatocellular Carcinoma
disease Neoplastic Process 76 8 0.010 None 1.000 1 2016 2016
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma
disease Neoplastic Process 76 13 0.010 None 1.000 1 2000 2000
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
CUI: C1709781
Disease: Pyothorax-Associated Lymphoma
Pyothorax-Associated Lymphoma
disease Neoplastic Process 26 0.010 None 1.000 1 2009 2009
CUI: C1855020
Disease: Acute necrotizing encephalopathy
Acute necrotizing encephalopathy
disease Disease or Syndrome 8 3 0.010 None 1.000 1 2004 2004