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: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement 		phenotype Laboratory Procedure 14 32 0.100 None 1.000 1 1 2014 2014
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		phenotype Laboratory Procedure 15 25 0.100 None 1.000 1 1 2014 2014
CUI: C0263859
Disease: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 15 5 0.300 None 1.000 1 1 2017 2017
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2009 2009
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2015 2015
CUI: C0029400
Disease: Osteitis
Osteitis 		disease Musculoskeletal Diseases Disease or Syndrome 47 6 0.010 None 1.000 1 1 2017 2017
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.300 None 1.000 2 2012 2012
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		phenotype Laboratory or Test Result 65 113 0.100 None 1.000 2 2 2012 2012
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.040 None 1.000 4 2 2008 2015
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 3 5 2012 2014
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 3 5 2012 2014
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0949691
Disease: Spondylarthropathies
Spondylarthropathies 		group Musculoskeletal Diseases Disease or Syndrome 92 7 0.010 None 1.000 1 1 2017 2017
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		phenotype Laboratory Procedure 96 212 0.100 None 1.000 3 3 2012 2015
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2018 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 1 2013 2013
CUI: C0018498
Disease: Hair Color
Hair Color 		phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.010 None 1.000 1 1 2017 2017
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 2 2016 2016
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.020 None 1.000 2 2 2015 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.400 None 1.000 3 2 2013 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2018 2018