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 322 90 1.000 0.940 663 27 1998 2018
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 19 16 1.000 1.000 32 11 1977 2016
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease Immune System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 63 7 0.900 0.957 74 3 1996 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 1702 215 0.700 0.922 128 5 1989 2018
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease Immune System Diseases; Neoplasms Neoplastic Process 66 10 0.700 0.989 97 7 1998 2018
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
disease Neoplasms Neoplastic Process 23 5 0.600 1.000 17 5 1993 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 59 0.560 0.833 9 2002 2016
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
disease Endocrine System Diseases; Male Urogenital Diseases; Neoplasms Neoplastic Process 113 72 0.520 1.000 4 2 2006 2009
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.500 0.978 119 22 1992 2018
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
disease Neoplastic Process 232 22 0.480 1.000 10 2 1994 2016
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.460 1.000 8 1 1997 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 300 203 0.440 1.000 5 2 2009 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.410 1.000 1 2018 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 672 83 0.400 0.893 28 1 1991 2016
CUI: C0036631
Disease: Seminoma
Seminoma
disease Neoplasms Neoplastic Process 228 13 0.400 0.938 16 2 1996 2014
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 29 5 0.400 0.727 11 2 2006 2014
Telangiectasia macularis eruptiva perstans
disease Disease or Syndrome 1 0.400 0
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 474 7 0.380 0.750 9 1997 2017
CUI: C0272203
Disease: Indolent Systemic Mastocytosis
Indolent Systemic Mastocytosis
disease Immune System Diseases; Neoplasms Neoplastic Process 10 1 0.380 0.875 9 1 2006 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.360 1.000 7 1992 2012
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa
disease Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 13 0.360 1.000 6 1996 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.350 1.000 6 2004 2012
CUI: C3898222
Disease: Mucosal Melanoma
Mucosal Melanoma
disease Neoplastic Process 14 1 0.350 1.000 5 2008 2018
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis
disease Immune System Diseases; Neoplasms Neoplastic Process 8 1 0.340 1.000 5 1 1996 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.320 1.000 3 2003 2011