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.
Familial Exudative Vitreoretinopathy
disease Congenital Abnormality 19 18 0.410 strong 1.000 2 1 2016 2016
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity
phenotype Disease or Syndrome 75 2 0.020 None 1.000 2 2018 2020
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
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2018 2018
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C1096250
Disease: Gastrointestinal discomfort
Gastrointestinal discomfort
phenotype Sign or Symptom 4 0.010 None 1.000 1 2017 2017
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy
disease Disease or Syndrome 31 6 0.010 None < 0.001 1 2020 2020
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects
phenotype Anatomical Abnormality 17 0.010 None 1.000 1 2019 2019
INTERSTITIAL NEPHRITIS, KARYOMEGALIC
disease Disease or Syndrome 9 11 0.010 None 1.000 1 2018 2018
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.010 None 1.000 1 2018 2018
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
disease Disease or Syndrome 1 6 0.700 None 1.000 1 6 2016 2016
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 2017 2017
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia
disease Disease or Syndrome 36 2 0.010 None < 0.001 1 2017 2017
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.100 None 1.000 14 2017 2020
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.080 None 0.875 8 2017 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.080 None 0.875 8 2017 2019
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.020 None 0.500 2 2017 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019