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.
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: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 1 1 2013 2013
CUI: C0202098
Disease: Insulin measurement
Insulin measurement
phenotype Laboratory Procedure 15 25 0.100 None 1.000 1 1 2014 2014
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
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
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: 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: C0027404
Disease: Narcolepsy
Narcolepsy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 308 454 0.100 None 1.000 1 1 2009 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.100 None 1.000 1 1 2011 2011
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 1.000 1 1 2017 2017
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 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: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
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: 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: C1272321
Disease: Autoantibody measurement
Autoantibody measurement
phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2009 2009
Finding of Mean Corpuscular Hemoglobin
phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
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: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2018 2018
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