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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.976 41 1 1995 2018
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.050 None 1.000 5 1999 2014
CUI: C0744855
Disease: hepatitis immune
hepatitis immune
disease Disease or Syndrome 4 0.040 None 1.000 4 2001 2018
CUI: C4728019
Disease: Acute on chronic hepatitis B
Acute on chronic hepatitis B
disease Disease or Syndrome 21 0.040 None 1.000 4 2011 2017
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
disease Congenital Abnormality 181 4 0.020 None 1.000 2 1999 2008
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 1998 2009
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.020 None 1.000 2 2018 2018
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 2007 2010
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 2007 2010
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 2007 2010
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 2007 2010
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.020 None 1.000 2 2007 2010
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.020 None 1.000 2 2018 2020
CUI: C4732730
Disease: Blood spots
Blood spots
disease Disease or Syndrome 117 0.020 None 1.000 2 1997 2002
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2008 2008
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.010 None 1.000 1 2013 2013
CUI: C0339480
Disease: Parafoveal telangiectasia
Parafoveal telangiectasia
disease Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms
phenotype Sign or Symptom 30 4 0.010 None 1.000 1 2017 2017
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 2 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 2 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2017 2017
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome
disease Disease or Syndrome 58 9 0.010 None 1.000 1 2009 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity
phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2005 2005
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 1989 1989