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: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
disease Disease or Syndrome 133 54 0.050 None 1.000 5 1995 2019
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.040 None 1.000 4 1995 2005
CUI: C1321756
Disease: Achalasia
Achalasia
disease Disease or Syndrome 40 5 0.020 None 1.000 2 2002 2014
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 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
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 124 243 0.100 None 1.000 1 1 2018 2018
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement
phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2010 2010
CUI: C0202202
Disease: Protein measurement
Protein measurement
group Laboratory Procedure 75 422 0.100 None 1.000 1 1 2010 2010
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2018 2018
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 1993 1993
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2003 2003
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.010 None < 0.001 1 2003 2003
CUI: C0349637
Disease: Common acute lymphoblastic leukemia
Common acute lymphoblastic leukemia
disease Neoplastic Process 43 0.010 None 1.000 1 1998 1998
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2016 2016
CUI: C0476227
Disease: pricking of skin
pricking of skin
phenotype Sign or Symptom 65 1 0.010 None 1.000 1 1996 1996
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
disease Disease or Syndrome 48 67 0.100 None 1.000 1 1 2019 2019
CUI: C0745287
Disease: infertility tubal factor
infertility tubal factor
disease Disease or Syndrome 19 4 0.010 None 1.000 1 2002 2002
CUI: C0746306
Disease: lupus cutaneous
lupus cutaneous
disease Disease or Syndrome 16 1 0.010 None 1.000 1 1997 1997
CUI: C0848034
Disease: Low IQ
Low IQ
phenotype Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2013 2013
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.010 None 1.000 1 1997 1997
Diarrhoea predominant irritable bowel syndrome
disease Disease or Syndrome 57 8 0.010 None 1.000 1 2015 2015
Autoimmune Hepatitis with Centrilobular Necrosis
disease Disease or Syndrome 6 3 0.100 None 1.000 1 1 2014 2014
Hepatitis B Virus-Related Hepatocellular Carcinoma
disease Neoplastic Process 76 8 0.010 None 1.000 1 2013 2013
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma
disease Neoplastic Process 76 13 0.010 None 1.000 1 2002 2002