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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2012 2012
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2006 2006
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2006 2006
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor
disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2007 2007
CUI: C0333693
Disease: Triploidy syndrome
Triploidy syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 42 0.010 None 1.000 1 2007 2007
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2006 2006
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity
disease Digestive System Diseases; Neoplasms Neoplastic Process 107 3 0.010 None 1.000 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2010 2010
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 24 7 0.010 None 1.000 1 2019 2019
CUI: C1266157
Disease: Intratubular malignant germ cells
Intratubular malignant germ cells
disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2007 2007
Congenital absence of germinal epithelium of testes
disease Male Urogenital Diseases Congenital Abnormality 82 6 0.010 None 1.000 1 2007 2007
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1997 1997
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2019 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2000 2000
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor
disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2007 2007
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None 1.000 1 2008 2008
CUI: C4048549
Disease: Malignant germ cell neoplasm
Malignant germ cell neoplasm
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2013 2013
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2019 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.010 None 1.000 1 1997 1997
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2007 2007
CUI: C0032051
Disease: Placental Insufficiency
Placental Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 45 0.010 None 1.000 1 2009 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.010 None 1.000 1 2006 2006
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2005 2005
CUI: C0018055
Disease: Gonadal Dysgenesis, Mixed
Gonadal Dysgenesis, Mixed
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.010 None 1.000 1 2014 2014