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 0.100 None 1.000 23 1995 2019
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.060 None 1.000 6 2007 2015
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.050 None 0.800 5 1995 2015
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2015 2019
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.020 None 1.000 2 2018 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
disease Neoplastic Process 151 3 0.020 None 1.000 2 2017 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2018 2018
CUI: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm
phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2011 2011
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
group Neoplastic Process 163 3 0.010 None 1.000 1 2011 2011
CUI: C0334070
Disease: Maturation defect
Maturation defect
phenotype Acquired Abnormality 43 2 0.010 None 1.000 1 2004 2004
CUI: C0406352
Disease: Acanthosis palmaris
Acanthosis palmaris
disease Disease or Syndrome 4 0.010 None < 0.001 1 1999 1999
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2017 2017
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast
phenotype Neoplastic Process 82 3 0.010 None 1.000 1 2018 2018
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
disease Disease or Syndrome 45 3 0.010 None 1.000 1 1993 1993
CUI: C3146251
Disease: Stage IV Colorectal Cancer AJCC v7
Stage IV Colorectal Cancer AJCC v7
disease Neoplastic Process 19 2 0.010 None 1.000 1 2019 2019
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2019 2019
CUI: C4048305
Disease: Neuroepithelioma
Neuroepithelioma
disease Neoplastic Process 28 0.010 None 1.000 1 1990 1990
CUI: C4290046
Disease: trachomatis
trachomatis
disease Disease or Syndrome 175 7 0.010 None 1.000 1 2010 2010
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6
disease Disease or Syndrome 1 1 0.700 strong 1.000 1 1 2016 2016
Platinum-Resistant Ovarian Carcinoma
disease Neoplastic Process 41 0.010 None 1.000 1 2018 2018
Advanced Cutaneous Melanoma of the Extremity
disease Neoplastic Process 2 0.010 None 1.000 1 2014 2014
CUI: C4745063
Disease: Biliary Tract Carcinoma
Biliary Tract Carcinoma
disease Neoplastic Process 25 1 0.010 None 1.000 1 2012 2012
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation
phenotype Cell or Molecular Dysfunction 151 0.100 None 0