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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.967 183 23 1992 2020
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: 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: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 1.000 34 5 1992 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: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		disease Neoplasms Neoplastic Process 75 7 0.600 None 1.000 24 5 1993 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: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1172 115 0.200 None 0.864 22 5 1991 2019
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.100 None 1.000 21 5 1996 2019
CUI: C0040100
Disease: Thymoma
Thymoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 291 20 0.170 None 0.950 20 8 2003 2013
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
Core binding factor acute myeloid leukemia 		disease Neoplasms Neoplastic Process 18 3 0.100 None 1.000 20 3 2004 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 0.842 19 2002 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 504 42 0.100 None 1.000 18 1 2006 2019
CUI: C0334664
Disease: Mast Cell Neoplasm
Mast Cell Neoplasm 		disease Neoplasms Neoplastic Process 33 4 0.100 None 0.944 18 4 1996 2018
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.400 None 0.941 17 2 1999 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		disease Neoplasms Neoplastic Process 633 22 0.100 None 0.933 15 2002 2016
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.100 None 1.000 15 2004 2014
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.100 None 1.000 14 1998 2019
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.100 None 0.929 14 2 1995 2018
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.100 None 1.000 13 1999 2019
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: 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: 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