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: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X
disease Disease or Syndrome 1 2 0.800 2 2 2010 2016
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.560 strong 1.000 6 1 1998 2016
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.310 1.000 2 2013 2014
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 2 2008 2015
CUI: C0238281
Disease: Middle Cerebral Artery Syndrome
Middle Cerebral Artery Syndrome
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
CUI: C0022116
Disease: Ischemia
Ischemia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.300 1 2009 2009
Thrombotic Infarction, Middle Cerebral Artery
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
Embolic Infarction, Middle Cerebral Artery
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
Right Middle Cerebral Artery Infarction
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
Respiratory Distress Syndrome, Adult
disease Respiratory Tract Diseases Disease or Syndrome 185 27 0.300 1 2015 2015
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
disease Digestive System Diseases Disease or Syndrome 682 71 0.300 1 2014 2014
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
phenotype Cardiovascular Diseases; Nervous System Diseases Acquired Abnormality 134 0.300 1 2003 2003
Left Middle Cerebral Artery Infarction
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
CUI: C0751845
Disease: Middle Cerebral Artery Embolus
Middle Cerebral Artery Embolus
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 34 0.300 1 2003 2003
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 0.300 1 2003 2003
Osteogenesis imperfecta type III (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 12 50 0.300 0
Preterm premature rupture of membranes (disorder)
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 1 0.300 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 5 2 2010 2017
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 369 1022 0.100 1 1 2015 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.100 1 3 2018 2018
CUI: C0562350
Disease: Hip circumference
Hip circumference
phenotype Clinical Attribute 89 159 0.100 1 1 2015 2015
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 110 303 0.100 1 1 2017 2017
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
phenotype Finding 369 1022 0.100 1 1 2015 2015
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity
phenotype Finding 12 1 0.100 0