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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 1.000 None 0.985 9 8 2001 2020
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 5 0.950 None 1.000 4 5 2009 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.800 None 0.966 1 11 2002 2020
Megalencephaly cutis marmorata telangiectatica congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 18 0.770 None 1.000 5 16 2009 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.700 None 0.987 8 2001 2020
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
disease Disease or Syndrome 1 9 0.700 limited 1.000 2 9 2005 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 702 856 0.700 None 0.985 2 11 2002 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 300 14 0.700 None 0.992 1 2005 2020
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 137 78 0.700 None 0.986 1 2 1999 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 134 547 0.700 None 0.984 0 12 1999 2019
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 3 0.670 strong 1.000 2 3 2009 2020
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease Skin and Connective Tissue Diseases Neoplastic Process 2 12 0.670 None 1.000 1 5 2007 2018
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 297 47 0.620 None 1.000 1 4 2005 2016
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 1 5 0.600 strong 1.000 2 5 2009 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.600 None 0.967 0 2002 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 265 0.600 None 1.000 0 2003 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 316 0.500 None 0.978 8 34 2004 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 616 281 0.500 None 0.984 2 1 2005 2020
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 206 404 0.500 None 0.979 1 19 2010 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 119 0.500 None 1.000 1 7 2006 2019
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 52 182 0.500 None 1.000 1 29 2001 2020
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 248 212 0.500 None 0.965 0 1 2005 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 111 31 0.500 None 0.941 0 2000 2020
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 23 237 0.500 None 0.972 0 2 2002 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 156 132 0.500 None 0.990 0 7 2003 2019