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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.800 strong 0.957 49 7 1999 2017
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 127 1261 0.700 0.940 215 231 1988 2018
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 1 61 0.700 definitive 63 61 1994 2017
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 49 40 0.700 0.923 14 3 2000 2015
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.600 strong 0.962 85 35 1988 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.600 1.000 31 33 1998 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.550 strong 1.000 5 2006 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.510 disputed 1.000 5 1 2002 2018
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 39 344 0.440 113 107 1991 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplastic Process 576 106 0.400 0.957 23 1 1999 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.909 11 1 2001 2011
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.400 strong 2 2017 2017
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.400 0 1
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 3 0.360 1.000 6 2007 2017
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.350 1.000 5 2006 2015
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 237 39 0.320 3 1999 2008
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 209 368 0.320 strong 1.000 2 2005 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.310 1.000 1 2010 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.310 1.000 1 2017 2017
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 121 1 0.300 strong 1 2014 2014
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 0.300 1 2016 2016
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 1 2016 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.300 1 2011 2011
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 52 21 0.300 limited 1 2017 2017
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
disease Neoplastic Process 18 0.300 0