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: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 4 6 0.900 1.000 21 6 1996 2017
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 9 0.700 2 9 1993 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.660 1.000 8 1 2007 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.560 1.000 7 2007 2017
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.430 1.000 7 2 2007 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.420 strong 1.000 2 2004 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.400 limited 2 2011 2012
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 16 17 0.390 0.889 9 2006 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.360 1.000 7 2009 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.350 1.000 6 2005 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.330 1.000 3 2005 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.310 1.000 2 2011 2013
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 165 6 0.310 1.000 2 2011 2013
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 964 87 0.310 1.000 2 2002 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.310 1.000 2 2011 2017
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.310 1.000 2 2007 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.310 < 0.001 2 2011 2013
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 121 3 0.310 1.000 2 2009 2011
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.310 1.000 1 2014 2014
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.310 1.000 1 2015 2015
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 574 71 0.310 1.000 1 2009 2009
CUI: C0917990
Disease: Acro-Osteolysis
Acro-Osteolysis
disease Musculoskeletal Diseases Disease or Syndrome 14 1 0.300 2 2016 2017
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 strong 2 2006 2012
CUI: C1704230
Disease: Grade I Astrocytoma
Grade I Astrocytoma
disease Neoplasms Neoplastic Process 31 0.300 1 2011 2011
CUI: C0334596
Disease: Medulloepithelioma
Medulloepithelioma
disease Neoplasms Neoplastic Process 11 0.300 1 2011 2011