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: C0302826
Disease: Expressed Emotion
Expressed Emotion
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2017 2017
CUI: C0012754
Disease: Distemper
Distemper
disease Infections; Animal Diseases Disease or Syndrome 12 0.010 None 1.000 1 2020 2020
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation
disease Digestive System Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 2018 2018
CUI: C0282667
Disease: Infant, Very Low Birth Weight
Infant, Very Low Birth Weight
disease Disease or Syndrome 26 1 0.010 None 1.000 1 2018 2018
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2005 2005
Adverse effects, not elsewhere classified
disease Injury or Poisoning 55 54 0.100 None 1.000 1 1 2019 2019
CUI: C2350236
Disease: Idiopathic Interstitial Pneumonias
Idiopathic Interstitial Pneumonias
disease Respiratory Tract Diseases Disease or Syndrome 64 4 0.010 None 1.000 1 2005 2005
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None < 0.001 1 2014 2014
CUI: C2937421
Disease: Prostatic Hyperplasia
Prostatic Hyperplasia
disease Male Urogenital Diseases Disease or Syndrome 112 1 0.010 None 1.000 1 2006 2006
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 121 11 0.010 None 1.000 1 1996 1996
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
disease Neoplastic Process 153 11 0.010 None 1.000 1 2019 2019
Congenital atresia of extrahepatic bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.010 None 1.000 1 1 2008 2008
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.010 None 1.000 1 1 2008 2008
androgen independent prostate cancer
disease Neoplastic Process 190 5 0.010 None 1.000 1 2006 2006
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.010 None 1.000 1 2001 2001
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.010 None < 0.001 1 2014 2014
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.010 None < 0.001 1 2014 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None < 0.001 1 2006 2006
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 None 1.000 1 2003 2003
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23 0.010 None < 0.001 1 1996 1996
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.010 None 1.000 1 2009 2009
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2016 2016
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2016 2016
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 2001 2001