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: C0749211
Disease: syphilis infection
syphilis infection 		disease Disease or Syndrome 1 0.030 None 1.000 3 2018 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2015 2019
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		disease Disease or Syndrome 1 5 0.700 strong 1.000 2 5 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2013 2013
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2017 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 1999 1999
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0 1
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		phenotype Finding 10 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1841684
Disease: Delayed ossification of carpal bones
Delayed ossification of carpal bones 		phenotype Finding 12 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0 1
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease Congenital Abnormality 57 6 0.100 None 0 1
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.010 None < 0.001 1 2013 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None < 0.001 1 2013 2013
CUI: C0020452
Disease: Hyperemia
Hyperemia 		disease Cardiovascular Diseases Disease or Syndrome 64 3 0.010 None 1.000 1 2013 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None < 0.001 1 2013 2013
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.010 None 1.000 1 2019 2019
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.120 None 1.000 2 1 2017 2017
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 78 14 0.100 None 0