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: C1399819
Disease: Humoral immunodeficiency
Humoral immunodeficiency 		disease Immune System Diseases Disease or Syndrome 9 4 0.010 None 1.000 1 2019 2019
CUI: C1959584
Disease: Cardiac Carcinoma
Cardiac Carcinoma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 10 4 0.010 None 1.000 1 2001 2001
CUI: C0010474
Disease: Curling Ulcer
Curling Ulcer 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 2012 2012
CUI: C0205882
Disease: Infections, Parvovirus
Infections, Parvovirus 		group Infections Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 12 19 0.010 None 1.000 1 2017 2017
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		phenotype Disease or Syndrome 13 3 0.010 None 1.000 1 2018 2018
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		disease Digestive System Diseases Disease or Syndrome 13 0.300 None 1.000 1 2018 2018
CUI: C0860218
Disease: ABO incompatibility
ABO incompatibility 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 2 0.080 None 1.000 8 2002 2019
CUI: C0009186
Disease: Coccidioidomycosis
Coccidioidomycosis 		disease Infections Disease or Syndrome 14 0.010 None 1.000 1 1999 1999
CUI: C0277919
Disease: Postthrombotic Syndrome
Postthrombotic Syndrome 		phenotype Cardiovascular Diseases Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C1112459
Disease: Unresectable Hepatocellular Carcinoma
Unresectable Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2018 2018
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		phenotype Laboratory Procedure 14 26 0.100 None 1.000 1 3 2013 2013
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		phenotype Laboratory Procedure 15 42 0.100 None 1.000 2 3 2010 2019
CUI: C0003509
Disease: Aortitis
Aortitis 		disease Cardiovascular Diseases Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C1263988
Disease: Hemolytic disorder
Hemolytic disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C0014761
Disease: Erythroblastosis, Fetal
Erythroblastosis, Fetal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.030 None 1.000 3 1979 2007
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.010 None 1.000 1 1994 1994
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		phenotype Laboratory Procedure 16 36 0.100 None 1.000 1 3 2013 2013
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		phenotype Laboratory Procedure 17 44 0.100 None 1.000 3 3 2012 2018
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		phenotype Laboratory Procedure 17 25 0.100 None 1.000 2 2 2012 2012
CUI: C0234935
Disease: Acute urticaria
Acute urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 17 0.010 None < 0.001 1 1979 1979
CUI: C3534585
Disease: Infection caused by Norovirus
Infection caused by Norovirus 		group Infections Disease or Syndrome 18 0.020 None 0.500 2 2010 2017
CUI: C0740985
Disease: Acute anaemia
Acute anaemia 		disease Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C1271398
Disease: Pigment dispersion syndrome (disorder)
Pigment dispersion syndrome (disorder) 		disease Eye Diseases Disease or Syndrome 18 3 0.010 None 1.000 1 1978 1978
CUI: C0221239
Disease: Rapidly progressive glomerulonephritis
Rapidly progressive glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2019 2019