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: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6
disease Disease or Syndrome 1 5 0.700 strong 1.000 4 5 2012 2019
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 4 10 2012 2019
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 3 3 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2015 2018
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.300 strong 1.000 2 2012 2014
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 4 2016 2016
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2016 2016
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
Colorectal Traditional Serrated Adenoma
disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
phenotype Congenital Abnormality 45 7 0.100 None 0
Increased mean corpuscular hemoglobin concentration
phenotype Finding 13 0.100 None 0
CUI: C4552908
Disease: Genital Edema, CTCAE
Genital Edema, CTCAE
phenotype Finding 1 0.100 None 0
CUI: C4553313
Disease: Periorbital Edema, CTCAE
Periorbital Edema, CTCAE
phenotype Finding 22 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.040 None 1.000 4 2016 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2018 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2018 2019
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 1.000 2 2 2018 2019
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.010 None 1.000 1 2017 2017