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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 1.000 definitive 0.951 844 46 1995 2020
CUI: C0024899
Disease: Mastocytosis
Mastocytosis 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 98 8 1.000 strong 0.989 94 4 1992 2020
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 1.000 None 1.000 35 12 1991 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.800 moderate 0.955 156 9 1989 2019
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.700 None 0.984 123 7 1998 2020
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 127 18 0.680 None 1.000 13 8 1992 2019
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.670 definitive 1.000 24 1998 2016
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 208 93 0.630 moderate 1.000 3 2 2008 2016
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		disease Neoplasms Neoplastic Process 75 7 0.600 None 1.000 24 5 1993 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.967 183 23 1992 2020
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.500 None 1.000 13 2 2009 2020
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.500 None 1.000 2 2009 2012
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.480 None 1.000 10 1 1994 2015
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.420 None 1.000 2 2007 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.400 None 0.941 102 3 1996 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.400 None 0.857 28 2 1991 2018
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.400 None 0.941 17 2 1999 2019
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 82 8 0.400 None 0.846 13 4 2006 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 1.000 11 1992 2018
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		disease Neoplastic Process 24 1 0.400 None 0.818 11 1 2011 2020
CUI: C0272203
Disease: Indolent Systemic Mastocytosis
Indolent Systemic Mastocytosis 		disease Neoplasms; Immune System Diseases Neoplastic Process 6 2 0.400 None 1.000 11 2 2006 2020
CUI: C0263402
Disease: Telangiectasia macularis eruptiva perstans
Telangiectasia macularis eruptiva perstans 		disease Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.400 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.390 None 1.000 10 1997 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.390 None 1.000 10 1997 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.390 None 1.000 10 2 1997 2018