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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2014 2019
Fenestration (morphologic abnormality)
disease Acquired Abnormality 43 0.020 None 1.000 2 2010 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2006 2007
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
disease Disease or Syndrome 130 5 0.010 None 1.000 1 2008 2008
CUI: C1299240
Disease: Carcinoma of supraglottis
Carcinoma of supraglottis
disease Neoplastic Process 7 0.010 None 1.000 1 2011 2011
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2018 2018
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 2018 2018
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2020 2020
Hypertrophic obstructive cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2020 2020
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.010 None 1.000 1 2004 2004
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2005 2005
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 0.030 None 1.000 3 1995 2007
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 224 10 0.010 None 1.000 1 2010 2010
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.330 None 1.000 4 2003 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.020 None 1.000 2 2006 2007
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.020 None 0.500 2 2001 2011
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst
disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.010 None < 0.001 1 2020 2020
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2001 2001
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2001 2001
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.010 None 1.000 1 2012 2012
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 2001 2001
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 2005 2005
CUI: C0033999
Disease: Pterygium
Pterygium
disease Eye Diseases Disease or Syndrome 216 5 0.010 None 1.000 1 2012 2012