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 0.990 382 2000 2020
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 1.000 125 2 2005 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.100 None 0.972 36 1 2010 2020
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.100 None 0.967 30 1996 2019
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.100 None 1.000 28 2009 2019
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		disease Disease or Syndrome 11 9 0.200 None 1.000 25 8 2015 2020
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		disease Neoplastic Process 103 0.100 None 1.000 19 2009 2019
CUI: C2720434
Disease: Macroencephaly
Macroencephaly 		disease Congenital Abnormality 22 3 0.100 None 1.000 15 1 2012 2019
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 14 3 2006 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.100 None 1.000 14 2017 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.100 None 1.000 13 2005 2018
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		disease Neoplastic Process 160 18 0.100 None 1.000 11 2 2012 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.100 None 1.000 10 2008 2019
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.090 None 1.000 9 2009 2016
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
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: C1334170
Disease: Indolent Non-Hodgkin Lymphoma
Indolent Non-Hodgkin Lymphoma 		disease Neoplastic Process 27 0.060 None 1.000 6 2017 2020
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: 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 2 2015 2019
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.060 None 1.000 6 2 2015 2019
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.060 None 1.000 6 2 2015 2019
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		disease Neoplastic Process 367 56 0.060 None 1.000 6 2 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 2 2015 2019
CUI: C4721208
Disease: Metastatic castration-resistant prostate cancer
Metastatic castration-resistant prostate cancer 		disease Neoplastic Process 140 2 0.060 None 0.833 6 2016 2019