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 0.040 None 0.750 4 2007 2018
CUI: C0687132
Disease: heavy drinking
heavy drinking
disease Mental or Behavioral Dysfunction 57 7 0.020 None 1.000 2 2014 2014
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2001 2001
CUI: C0683342
Disease: hazardous drinking
hazardous drinking
phenotype Mental or Behavioral Dysfunction 11 8 0.010 None 1.000 1 4 2017 2017
CUI: C0683357
Disease: Excessive drinking
Excessive drinking
phenotype Mental or Behavioral Dysfunction 15 1 0.010 None 1.000 1 2008 2008
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
phenotype Disease or Syndrome 171 1 0.010 None 1.000 1 2007 2007
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2018 2018
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated
disease Congenital Abnormality 20 2 0.010 None 1.000 1 2009 2009
CUI: C0240341
Disease: Micrographia
Micrographia
phenotype Finding 14 0.100 None 0
Neuronal loss in central nervous system
phenotype Finding 37 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.300 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5
phenotype Finding 34 0.100 None 0
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.050 None 1.000 5 1 2002 2009
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 0.667 3 2 2003 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.030 None 0.667 3 2005 2013
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.020 None 1.000 2 2005 2008
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.010 None 1.000 1 2012 2012
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
group Chemically-Induced Disorders Disease or Syndrome 50 180 0.100 None 1.000 2 5 2014 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.700 None 1.000 55 10 1991 2019
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.360 None 1.000 7 2 2005 2019
CUI: C0001969
Disease: Alcoholic Intoxication
Alcoholic Intoxication
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 52 4 0.310 None 1.000 5 2007 2014
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 24 0.530 None 1.000 5 1 1994 2012
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 54 180 0.100 None 1.000 2 5 2014 2019