Source: BEFREE ×
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2005 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 740 41 0.020 None 1.000 2 1 2018 2020
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2017 2017
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 608 51 0.110 None 1.000 1 2010 2010
CUI: C2712907
Disease: obsolete Combined hyperlipidemia
obsolete Combined hyperlipidemia 		disease Disease or Syndrome 17 4 0.010 None 1.000 1 1996 1996
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts 		disease Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1995 266 0.040 None 1.000 4 2000 2013
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1998 271 0.450 None 1.000 4 2000 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1551 382 0.010 None 1.000 1 2018 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1262 440 0.010 None 1.000 1 2013 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1432 769 0.010 None 1.000 1 2013 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1504 1022 0.010 None 1.000 1 2 2013 2013
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2005 2005
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2010 2010
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 6 0.800 None 0.985 86 5 1975 2019
CUI: C0023794
Disease: Lipoidosis
Lipoidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 0.040 None 1.000 4 1991 2017
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 103 3 0.030 None 1.000 3 1992 2018
CUI: C0267971
Disease: Storage disease
Storage disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 1 0.030 None 1.000 3 1992 1994
CUI: C0268689
Disease: Vitamin D-dependent rickets, type 1
Vitamin D-dependent rickets, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 6 2 0.010 None 1.000 1 2001 2001
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 666 137 0.020 None 1.000 2 1 2014 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 276 11 0.420 None 1.000 2 2005 2018
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 582 33 0.010 None 1.000 1 2002 2002
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 47 12 0.010 None 1.000 1 2009 2009
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		disease Digestive System Diseases Disease or Syndrome 50 0.010 None 1.000 1 2017 2017