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.
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
disease Disease or Syndrome 1 3 0.710 None 1.000 2 3 2015 2019
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
phenotype Finding 5 11 0.400 None 1.000 2 2 2013 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.160 None 1.000 9 4 2013 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.110 None 1.000 1 3 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 11 8 2008 2019
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 4 4 2008 2013
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 3 1 2017 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 3 2 2012 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 2 3 2018 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 1 2019 2019
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests
phenotype Diagnostic Procedure 67 108 0.100 None 1.000 2 1 2010 2012
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution
phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 1.000 1 1 2013 2013
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2017 2017
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0231921
Disease: Pulmonary function
Pulmonary function
phenotype Organ or Tissue Function 41 259 0.100 None 1.000 1 52 2010 2010
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 2 2019 2019
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 2 2017 2017
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding)
phenotype Finding 41 259 0.100 None 1.000 1 52 2010 2010
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 1 2019 2019
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2017 2017
CUI: C0332878
Disease: Congenital contracture
Congenital contracture
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0