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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.020 None 1.000 2 1 2006 2012
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 6 1 0.300 None 1.000 1 2002 2002
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.010 None 1.000 1 2016 2016
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.100 None 1.000 13 5 2009 2019
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 1996 1996
CUI: C0001231
Disease: ACTH Syndrome, Ectopic
ACTH Syndrome, Ectopic 		disease Neoplasms Disease or Syndrome 11 0.020 None 0.500 2 1993 2010
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 46 8 0.010 None 1.000 1 2019 2019
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
ACTH-Secreting Pituitary Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 67 5 0.040 None 0.750 4 1 1996 2012
CUI: C0267026
Disease: Actinic cheilitis
Actinic cheilitis 		disease Stomatognathic Diseases Disease or Syndrome 64 8 0.010 None 1.000 1 2018 2018
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 405 135 0.020 None 0.500 2 1 2009 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		disease Cardiovascular Diseases Disease or Syndrome 440 139 0.010 None 1.000 1 2019 2019
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		disease Immune System Diseases Disease or Syndrome 294 49 0.020 None 1.000 2 3 2015 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 0.960 25 7 2000 2018
CUI: C4728019
Disease: Acute on chronic hepatitis B
Acute on chronic hepatitis B 		disease Disease or Syndrome 21 0.010 None 1.000 1 2011 2011
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6 0.010 None 1.000 1 2011 2011
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia 		disease Neoplastic Process 119 1 0.020 None 1.000 2 2008 2016
CUI: C3850141
Disease: Acute-On-Chronic Liver Failure
Acute-On-Chronic Liver Failure 		disease Digestive System Diseases Disease or Syndrome 140 5 0.010 None 1.000 1 2020 2020
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.050 None 1.000 5 2011 2019
CUI: C0001403
Disease: Addison Disease
Addison Disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 111 13 0.060 None 1.000 6 1 2005 2017
CUI: C0151467
Disease: Addisonian crisis
Addisonian crisis 		disease Pathological Conditions, Signs and Symptoms; Endocrine System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.020 None 1.000 2 2008 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2018 2018
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.070 None 0.857 7 1997 2017
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 1988 1988