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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 1999 1999
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive
disease Neoplasms Neoplastic Process 184 6 0.010 None 1.000 1 2003 2003
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma
disease Neoplastic Process 28 0.010 None 1.000 1 2003 2003
CUI: C0343532
Disease: Streptococcal toxic shock syndrome
Streptococcal toxic shock syndrome
phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 16 0.010 None 1.000 1 2004 2004
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
phenotype Neoplasms Neoplastic Process 184 9 0.010 None 1.000 1 2004 2004
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
disease Cardiovascular Diseases Disease or Syndrome 756 103 0.300 None 1.000 1 2005 2005
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2005 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.010 None 1.000 1 2005 2005
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2007 2007
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.010 None 1.000 1 2008 2008
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.010 None 1.000 1 2008 2008
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2009 2009
CUI: C0031350
Disease: Pharyngitis
Pharyngitis
disease Infections; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 30 0.010 None 1.000 1 2010 2010
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 182 0.020 None 1.000 2 2006 2011
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 875 35 0.010 None 1.000 1 2011 2011
CUI: C4723838
Disease: Metastatic Breast Carcinoma
Metastatic Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 61 1 0.010 None 1.000 1 2011 2011
CUI: C0007384
Disease: Cataplexy
Cataplexy
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 36 5 0.010 None 1.000 1 2011 2011
CUI: C4688316
Disease: Refractory Breast Carcinoma
Refractory Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2011 2011
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.010 None 1.000 1 2011 2011
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 1143 75 0.010 None 1.000 1 2011 2011
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26 0.010 None 1.000 1 2011 2011
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2012 2012
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.010 None 1.000 1 2012 2012
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.020 None 1.000 2 2006 2013
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 1348 204 0.010 None 1.000 1 2013 2013