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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.500 None 1.000 29 4 2010 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.200 None 1.000 28 4 2004 2019
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		disease Neoplasms Neoplastic Process 42 8 0.100 None 1.000 28 2 2011 2020
CUI: C4523846
Disease: MSI-high
MSI-high 		disease Neoplastic Process 83 9 0.100 None 1.000 28 2 2007 2019
CUI: C3899645
Disease: Childhood Pleomorphic Xanthoastrocytoma
Childhood Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 42 7 0.100 None 1.000 27 2 2011 2020
CUI: C3899655
Disease: Childhood Langerhans Cell Histiocytosis
Childhood Langerhans Cell Histiocytosis 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.100 None 1.000 27 2 2010 2019
CUI: C3900100
Disease: Adult Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Neoplastic Process 40 2 0.100 None 1.000 27 2 2010 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.400 None 1.000 26 2 2008 2019
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.100 None 0.808 26 5 2003 2019
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.100 None 0.920 25 3 2003 2020
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.100 None 1.000 24 2 2005 2019
CUI: C0878675
Disease: Erdheim-Chester Disease
Erdheim-Chester Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 29 2 0.400 None 1.000 24 2 2012 2020
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.500 None 0.958 24 4 2002 2019
CUI: C1709457
Disease: Papillary Thyroid Microcarcinoma
Papillary Thyroid Microcarcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 46 2 0.100 None 0.958 24 2 2005 2020
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.100 None 0.826 23 3 2003 2018
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.100 None 0.913 23 2 2003 2019
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		disease Neoplasms Neoplastic Process 174 4 0.400 None 0.955 22 2 2014 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.100 None 0.955 22 2 2003 2019
CUI: C1321872
Disease: Stage IV Skin Melanoma
Stage IV Skin Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 45 29 0.100 None 1.000 22 3 2007 2019
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.200 None 0.952 21 2 2003 2019
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		disease Neoplasms Neoplastic Process 38 4 0.200 None 1.000 21 3 2011 2020
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma 		disease Neoplasms Neoplastic Process 90 2 0.100 None 0.950 20 2 2007 2019
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.100 None 1.000 20 2 2008 2019
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.100 None 0.947 19 2 2009 2019
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		disease Neoplasms Neoplastic Process 293 28 0.100 None 1.000 19 3 2004 2019