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: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2014 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 1 2017 2017
CUI: C2673892
Disease: Ductal plate malformation
Ductal plate malformation
disease Congenital Abnormality 3 0.020 None 1.000 2 2005 2015
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2015 2015
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C0021888
Disease: Physiologic Intraocular Pressure
Physiologic Intraocular Pressure
phenotype Organ or Tissue Function 3 13 0.100 None 1.000 1 1 2014 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2017 2017
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
phenotype Organism Function 131 1106 0.100 None 1.000 1 3 2015 2015
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2011 2011
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0266619
Disease: Potter's facies
Potter's facies
disease Congenital Abnormality 9 0.100 None 0
CUI: C0542518
Disease: Enlarged kidney
Enlarged kidney
phenotype Finding 27 2 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 0.100 None 0
Absence of renal corticomedullary differentiation
phenotype Finding 3 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia
phenotype Finding 73 2 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.100 None 0
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage
phenotype Finding 14 0.100 None 0
Abnormality of the intrahepatic bile duct
disease Anatomical Abnormality 10 2 0.100 None 0 2
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.030 None 1.000 3 1 2010 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.120 None 1.000 2 2012 2018