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 0.997 346 2000 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 69 2005 2019
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.100 None 1.000 21 2009 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.100 None 1.000 15 2010 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.100 None 1.000 11 2008 2019
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.100 None 1.000 11 1996 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 1.000 10 2005 2018
CUI: C1334170
Disease: Indolent Non-Hodgkin Lymphoma
Indolent Non-Hodgkin Lymphoma
disease Neoplastic Process 27 0.090 None 1.000 9 2013 2020
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.090 None 1.000 9 2010 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.080 None 1.000 8 2017 2019
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
disease Neoplastic Process 151 3 0.080 None 1.000 8 2017 2019
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum
disease Disease or Syndrome 11 9 0.080 None 1.000 8 2015 2019
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
disease Neoplastic Process 160 18 0.080 None 1.000 8 2012 2018
CUI: C2720434
Disease: Macroencephaly
Macroencephaly
disease Congenital Abnormality 22 3 0.070 None 1.000 7 1 2014 2019
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma
disease Neoplastic Process 103 0.070 None 1.000 7 2014 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.060 None 1.000 6 2017 2019
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.060 None 0.833 6 2005 2018
CUI: C2062441
Disease: Influenza A
Influenza A
disease Disease or Syndrome 563 19 0.060 None 1.000 6 2010 2019
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.060 None 1.000 6 2009 2016
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.060 None 1.000 6 2015 2019
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.060 None 1.000 6 2015 2019
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.060 None 1.000 6 2015 2019
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.060 None 1.000 6 2015 2019
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.060 None 1.000 6 2015 2019
Metastatic castration-resistant prostate cancer
disease Neoplastic Process 140 2 0.060 None 0.833 6 2016 2019