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.
Hereditary Nonpolyposis Colorectal Cancer
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.800 definitive 0.979 191 81 1994 2020
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 77 75 0.800 definitive 0.978 45 34 1995 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.700 definitive 0.973 111 7 1994 2020
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 2 50 0.700 None 1.000 48 49 1995 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.700 strong 1.000 27 2 1999 2020
Hereditary Nonpolyposis Colorectal Neoplasms
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 40 875 0.640 definitive 1.000 95 143 1986 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.630 strong 1.000 3 3 2014 2019
Constitutional Mismatch Repair Deficiency Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 6 1 0.560 definitive 1.000 17 1 1998 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.500 strong 0.967 60 6 1998 2020
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 31 0.500 definitive 1.000 10 1994 2015
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.440 None 1.000 4 3 2006 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.420 None 1.000 2 2 2009 2013
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.410 None 1.000 1 2009 2009
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1235 197 0.400 None 1.000 17 1 2010 2019
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.400 None 1.000 1 2004 2004
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.310 None 1.000 2 2007 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.310 None 1.000 1 2003 2003
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.310 None 1.000 1 1 2010 2010
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.300 disputed 1.000 4 1995 2018
CUI: C0700367
Disease: Ependymoblastoma
Ependymoblastoma
disease Neoplasms Neoplastic Process 19 0.300 None 1.000 1 2004 2004
CUI: C0038874
Disease: Supratentorial Neoplasms
Supratentorial Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 12 2 0.300 None 1.000 1 2004 2004
CUI: C0334584
Disease: Spongioblastoma
Spongioblastoma
disease Neoplasms Neoplastic Process 8 0.300 None 1.000 1 2004 2004
CUI: C0334596
Disease: Medulloepithelioma
Medulloepithelioma
disease Neoplasms Neoplastic Process 13 0.300 None 1.000 1 2004 2004
Cerebral Primitive Neuroectodermal Tumor
disease Neoplasms Neoplastic Process 9 0.300 None 1.000 1 2004 2004
CUI: C0751590
Disease: Primary Supratentorial Neoplasms
Primary Supratentorial Neoplasms
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.300 None 1.000 1 2004 2004