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 6941 3417 1.000 None 0.985 542 13 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 8 5 2009 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.800 None 0.966 175 13 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 18 18 0.770 None 1.000 12 16 2009 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.700 None 0.987 520 8 2001 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.700 None 0.985 266 13 2002 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.700 None 0.992 121 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 2563 315 0.700 None 0.986 72 6 1999 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.700 None 0.984 62 15 1999 2019
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: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 4 0.670 strong 1.000 8 3 2009 2020
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
disease Skin and Connective Tissue Diseases Neoplastic Process 44 21 0.670 None 1.000 7 5 2007 2018
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.620 None 1.000 3 4 2005 2016
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.600 None 0.967 123 2 2002 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.600 None 1.000 16 1 2003 2019
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.500 None 0.990 191 7 2003 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.500 None 0.941 152 2000 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.500 None 0.984 127 1 2005 2020
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.500 None 0.972 106 4 2002 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.500 None 0.978 89 34 2004 2020
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.965 85 2 2005 2019
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.500 None 1.000 68 29 2001 2020
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.500 None 0.979 48 20 2010 2020
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.500 None 1.000 40 7 2006 2019