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: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		disease Disease or Syndrome 1 4 0.700 strong 1.000 6 4 2012 2018
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.030 None 1.000 3 2016 2019
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.030 None 1.000 3 2011 2019
CUI: C4273970
Disease: Familial pseudohyperkalemia
Familial pseudohyperkalemia 		disease Disease or Syndrome 1 0.030 None 1.000 3 2013 2016
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.020 None 1.000 2 2018 2019
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		disease Disease or Syndrome 7 1 0.020 None 1.000 2 1979 1985
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2019
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.020 None 1.000 2 2000 2016
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		disease Disease or Syndrome 3 4 0.700 None 1.000 2 2 2012 2018
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2019 2019
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0458118
Disease: Total body pain syndrome
Total body pain syndrome 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.010 None 1.000 1 2011 2011
CUI: C0521857
Disease: Increased drug resistance
Increased drug resistance 		phenotype Disease or Syndrome 47 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2019 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.010 None < 0.001 1 2015 2015
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.010 None < 0.001 1 2015 2015
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.010 None 1.000 1 2019 2019
CUI: C0814161
Disease: impaired motor coordination
impaired motor coordination 		phenotype Sign or Symptom 21 2 0.010 None 1.000 1 1998 1998
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		disease Neoplastic Process 32 2 0.010 None 1.000 1 2017 2017
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1306229
Disease: Dyschromatosis universalis
Dyschromatosis universalis 		disease Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C1333295
Disease: Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 		disease Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C1333978
Disease: Hepatitis C Virus-Related Hepatocellular Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma 		disease Neoplastic Process 18 1 0.010 None 1.000 1 2013 2013