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: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 6 6 2010 2019
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 3 1 2010 2013
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 1 2018 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0740404
Disease: Limb defects
Limb defects 		group Congenital Abnormality 67 2 0.010 None 1.000 1 2017 2017
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2005 2005
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL 		disease Disease or Syndrome 39 5 0.200 None 0
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		disease Disease or Syndrome 29 2 0.200 None 0
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		disease Disease or Syndrome 30 3 0.200 None 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		disease Disease or Syndrome 30 2 0.200 None 0
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2019 2019
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 276 69 0.010 None 1.000 1 1 2012 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2011 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2011 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.020 None 1.000 2 2008 2017
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.300 None 1.000 1 2008 2008
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.300 None 1.000 1 2008 2008
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.300 None 1.000 1 2008 2008
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 59 6 0.010 None 1.000 1 2017 2017
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2017 2017
CUI: C0220708
Disease: VATER Association
VATER Association 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 12 0.500 None 1.000 1 2008 2008
CUI: C1531773
Disease: Currarino triad
Currarino triad 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 7 7 0.310 None 1.000 1 2008 2008