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: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 3 2012 2012
CUI: C0202098
Disease: Insulin measurement
Insulin measurement
phenotype Laboratory Procedure 15 25 0.100 None 1.000 1 1 2014 2014
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: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
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: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
disease Skin and Connective Tissue Diseases Disease or Syndrome 255 80 0.100 None 1.000 1 1 2015 2015
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement
phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2009 2009
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
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: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 3 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement
phenotype Laboratory Procedure 14 32 0.100 None 1.000 1 1 2014 2014
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 1.000 1 1 2015 2015
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 1.000 1 1 2011 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.100 None 1.000 1 7 2011 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 1.000 1 1 2012 2012
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 1 1 2016 2016
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