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: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Cardiovascular Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 31 3 0.630 1.000 4 1 2005 2015
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 407 7 0.600 0.971 139 1999 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 1.000 38 2005 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.600 1.000 36 2005 2017
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.600 1.000 14 2008 2018
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 19 0.530 1.000 3 4 2014 2016
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 50 11 0.500 0.800 10 1 2006 2016
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 0.500 0
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder
group Disease or Syndrome 27 6 0.440 1.000 6 6 2005 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.400 1.000 20 1999 2015
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 363 4 0.400 1.000 14 1 2006 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 1.000 12 2005 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.400 0.900 11 2011 2016
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
disease Disease or Syndrome 1 13 0.400 5 13 1992 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 606 30 0.380 1.000 8 1 2005 2016
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 933 288 0.360 1.000 6 2011 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2000 135 0.360 1.000 6 2009 2016
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 964 87 0.350 1.000 6 2002 2014
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 1022 148 0.350 0.800 6 2012 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.340 1.000 5 2007 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.340 1.000 4 2017 2018
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.330 1.000 4 2013 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.320 1.000 3 2010 2013
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 306 23 0.320 1.000 3 2008 2017
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 348 13 0.320 1.000 2 2012 2013