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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.080 None 1.000 8 3 2002 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.060 None 1.000 6 1 2004 2019
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.020 None 1.000 2 1993 2000
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2018 2018
CUI: C0342704
Disease: Deficiency of Cobalamin G
Deficiency of Cobalamin G 		disease Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C0747845
Disease: early pregnancy
early pregnancy 		phenotype Disease or Syndrome 273 8 0.010 None 1.000 1 2007 2007
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 1 1 2019 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2015 2015
CUI: C1291316
Disease: Deficiency of reductase
Deficiency of reductase 		disease Disease or Syndrome 10 8 0.010 None 1.000 1 2016 2016
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.010 None 1.000 1 1 2018 2018
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		disease Neoplastic Process 32 13 0.010 None 1.000 1 1 2013 2013
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		disease Disease or Syndrome 25 6 0.010 None 1.000 1 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1848555
Disease: Hypomethioninemia
Hypomethioninemia 		phenotype Finding 5 0.100 None 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		phenotype Finding 6 1 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia 		phenotype Finding 11 1 0.100 None 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		phenotype Finding 7 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 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 1 2013 2013
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 1 2013 2013