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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 395 403 1.000 0.944 544 388 1978 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1119 228 0.700 0.950 82 4 1998 2017
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 348 13 0.700 1.000 26 3 1999 2016
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 1940 76 0.700 1.000 20 1998 2017
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 28 7 0.700 1.000 20 7 1996 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.630 1.000 4 2011 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.600 0.947 150 17 1996 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 0.949 138 17 1996 2018
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 28 0.600 32 28 1995 2016
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.600 0.905 23 1998 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.600 1.000 15 1998 2018
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.570 limited 1.000 11 1 1998 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.570 1.000 8 2008 2017
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.560 1.000 7 2008 2017
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.520 1.000 3 2001 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.500 0.818 37 2 1996 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.500 definitive 0.923 19 12 1998 2016
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.500 1.000 13 2 2008 2017
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Neoplastic Process 296 127 0.500 1 5 2007 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 1235 103 0.430 1.000 4 2011 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 0.957 26 4 2001 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.400 1.000 15 1998 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.400 0.917 13 1 2001 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 1875 224 0.400 0.875 11 2004 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.380 1.000 8 1 2003 2018