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: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 15 0.100 0
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 112 6 0.010 1.000 1 2008 2008
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 316 19 0.010 1.000 1 2015 2015
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.010 1 2007 2007
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 198 7 0.010 1.000 1 2015 2015
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplastic Process 167 7 0.300 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.650 definitive 0.800 40 34 2001 2017
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO
phenotype Finding 7 15 0.100 1 1 2015 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.700 0.903 31 7 1997 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.030 1.000 3 2003 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.010 < 0.001 1 2006 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplastic Process 1655 87 0.060 1.000 6 2 2010 2014
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 964 87 0.010 1.000 1 2 2009 2009
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplastic Process 1104 100 0.010 1.000 1 2 2009 2009
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.010 1.000 1 2012 2012
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.020 1.000 2 2002 2006
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 1328 197 0.020 1.000 2 2016 2018
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 18 1 0.010 1.000 1 2018 2018
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 51 1572 0.400 8 3 2010 2016
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
group Neoplastic Process 61 17 0.010 < 0.001 1 2009 2009
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 27 0.300 limited 4 2001 2016
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 127 1261 0.300 limited 4 2001 2016
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 39 344 0.300 limited 4 2001 2016
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Disease or Syndrome 393 209 0.010 1.000 1 2002 2002
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.010 1.000 1 2015 2015