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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 3 2 2016 2019
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 2 2 2012 2016
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 2 2019 2019
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 80 134 0.100 None 1.000 2 1 2016 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 2 2012 2012
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 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
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 1 1 2018 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2015 2015
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0858599
Disease: Taste sour
Taste sour
phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 2 2012 2012
Adverse Event Associated with Cardiac Arrhythmia
phenotype Disease or Syndrome 42 5 0.010 None 1.000 1 2019 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction
disease Mental or Behavioral Dysfunction 33 3 0.010 None 1.000 1 2013 2013
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.010 None 1.000 1 2019 2019
CUI: C4509113
Disease: bipolar type I disorder
bipolar type I disorder
disease Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2013 2013
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 6 2012 2012
CUI: C0239479
Disease: Round face
Round face
phenotype Finding 88 3 0.100 None 0
CUI: C0239815
Disease: Hand clenching
Hand clenching
phenotype Finding 26 9 0.100 None 0 1
Ventricular Arrhythmia by ECG Finding
phenotype Laboratory or Test Result 17 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1