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.
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 1 1 2012 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 1 1 2012 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 3919 129 0.030 1.000 3 2001 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 593 489 0.020 0.500 2 2009 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.010 1.000 1 2015 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.010 1.000 1 2005 2005
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.010 1.000 1 2011 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 2016 2016
CUI: C0599055
Disease: Waldenstrom's disease
Waldenstrom's disease
disease Disease or Syndrome 2 1 0.010 1.000 1 1993 1993
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
disease Digestive System Diseases Disease or Syndrome 129 12 0.010 1.000 1 2014 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.010 1.000 1 2016 2016
Infection caused by Helicobacter pylori
disease Disease or Syndrome 307 53 0.010 1.000 1 2015 2015
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
disease Neoplastic Process 384 9 0.010 1.000 1 2016 2016
CUI: C0860168
Disease: Distal colitis
Distal colitis
disease Disease or Syndrome 2 3 0.010 1.000 1 2 2016 2016
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 217 2 0.010 1.000 1 2016 2016
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplastic Process 2267 400 0.010 1.000 1 2011 2011
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 387 121 0.010 1.000 1 2 2016 2016
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.010 1.000 1 2014 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.010 1.000 1 2007 2007
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.010 1.000 1 2000 2000
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.010 1.000 1 2011 2011
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1868 225 0.010 1.000 1 2000 2000
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 607 6 0.010 1.000 1 2 2016 2016
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 914 696 0.010 1.000 1 1 2016 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2931 539 0.010 1.000 1 2014 2014