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: C4721208
Disease: Metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer 		disease Neoplastic Process 140 2 0.020 None 1.000 2 2019 2019
CUI: C0278506
Disease: Non-small cell lung cancer stage III
Non-small cell lung cancer stage III 		disease Neoplastic Process 16 1 0.010 None 1.000 1 2019 2019
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		phenotype Laboratory Procedure 13 0.300 limited 1.000 1 2016 2016
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.300 limited 1.000 1 2016 2016
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		disease Disease or Syndrome 66 2 0.010 None 1.000 1 2009 2009
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None < 0.001 1 2010 2010
CUI: C3278154
Disease: GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIA 		disease Disease or Syndrome 1 3 0.400 None 1.000 1 3 2016 2016
CUI: C3472608
Disease: Micropapillary carcinoma
Micropapillary carcinoma 		disease Neoplastic Process 29 0.010 None 1.000 1 2011 2011
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		phenotype Sign or Symptom 46 5 0.010 None 1.000 1 2019 2019
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma 		disease Neoplastic Process 73 5 0.010 None 1.000 1 2018 2018
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		phenotype Disease or Syndrome 8 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype Finding 85 9 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		phenotype Finding 6 0.100 None 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype Finding 71 5 0.100 None 0
CUI: C1969144
Disease: Renal cortical cysts
Renal cortical cysts 		phenotype Finding 14 1 0.100 None 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		phenotype Finding 3 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2010 2010
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2010 2010
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None 1.000 1 2019 2019
CUI: C0264733
Disease: Ventricular dilatation (disorder)
Ventricular dilatation (disorder) 		disease Cardiovascular Diseases Disease or Syndrome 13 0.010 None 1.000 1 2020 2020