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: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.030 None 0.667 3 1990 2015
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.020 None 1.000 2 2002 2002
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 0.500 2 2002 2016
CUI: C0032176
Disease: Platelet aggregation
Platelet aggregation
phenotype Cell Function 7 11 0.100 None 1.000 1 1 2010 2010
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 1 2018 2018
CUI: C0278486
Disease: Breast cancer stage II
Breast cancer stage II
disease Neoplastic Process 10 1 0.010 None 1.000 1 1988 1988
CUI: C0278504
Disease: Non-small cell lung cancer stage I
Non-small cell lung cancer stage I
disease Neoplastic Process 115 1 0.010 None 1.000 1 2004 2004
Metastatic Squamous Cell Carcinoma of the Oropharynx
disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
disease Disease or Syndrome 130 5 0.010 None 1.000 1 2008 2008
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke
disease Disease or Syndrome 42 28 0.100 None 1.000 1 1 2018 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
disease Neoplastic Process 151 3 0.010 None 1.000 1 2002 2002
CUI: C3495949
Disease: Locally advanced breast cancer
Locally advanced breast cancer
disease Neoplastic Process 71 3 0.010 None 1.000 1 2002 2002
Stage II Breast Cancer AJCC v6 and v7
disease Neoplastic Process 11 1 0.010 None 1.000 1 1988 1988
Anatomic Stage II Breast Cancer AJCC v8
disease Neoplastic Process 9 1 0.010 None 1.000 1 1988 1988
Prognostic Stage II Breast Cancer AJCC v8
disease Neoplastic Process 9 1 0.010 None 1.000 1 1988 1988
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.010 None 1.000 1 2004 2004
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.020 None 1.000 2 2003 2018
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 4 0.020 None 1.000 2 2003 2018
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2017 2017
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2017 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 2 2005 2007
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2007 2007
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 1992 1992
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 167 11 0.010 None 1.000 1 2015 2015
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2005 2005