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.
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.988 252 4 2004 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.970 101 2 2004 2020
CUI: C4727838
Disease: Advanced Melanoma
Advanced Melanoma
disease Neoplastic Process 73 5 0.100 None 0.979 94 3 2011 2020
CUI: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.100 None 1.000 28 2 2007 2019
Childhood Pleomorphic Xanthoastrocytoma
disease Neoplastic Process 42 7 0.100 None 1.000 27 2 2011 2020
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.100 None 1.000 20 2 2008 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 0.947 19 2 2002 2018
Stage IV Cutaneous Melanoma AJCC v6 and v7
disease Neoplastic Process 26 4 0.100 None 1.000 17 3 2013 2019
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.100 None 0.812 16 2 2005 2019
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
disease Neoplastic Process 48 6 0.100 None 1.000 15 2 2006 2019
CUI: C4289580
Disease: Epithelioid glioblastoma
Epithelioid glioblastoma
disease Neoplastic Process 24 3 0.100 None 0.933 15 2 2014 2019
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
disease Neoplastic Process 30 2 0.100 None 0.929 14 2 2004 2020
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
phenotype Neoplastic Process 384 40 0.100 None 1.000 12 3 2006 2019
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
disease Disease or Syndrome 384 40 0.100 None 1.000 12 3 2006 2019
Mixed follicular and papillary thyroid carcinoma
disease Neoplastic Process 31 8 0.100 None 1.000 11 3 2008 2018
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.100 None 1.000 11 2 2009 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 10 8 1968 2013
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.100 None 1.000 10 2 2011 2018
Stage III Cutaneous Melanoma AJCC v6
disease Neoplastic Process 24 2 0.090 None 1.000 9 2 2014 2019
CUI: C4524257
Disease: MSI-low
MSI-low
disease Neoplastic Process 37 2 0.090 None 0.889 9 2 2006 2018
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder)
disease Disease or Syndrome 130 5 0.080 None 1.000 8 2 2009 2019
CUI: C1266051
Disease: Papillary microcarcinoma
Papillary microcarcinoma
disease Neoplastic Process 13 3 0.080 None 0.875 8 3 2008 2017
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7
disease Neoplastic Process 42 3 0.070 None 1.000 7 2 2010 2019
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma
disease Neoplastic Process 24 1 0.070 None 1.000 7 2011 2019
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8
disease Neoplastic Process 42 3 0.070 None 1.000 7 2 2010 2019