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
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: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0.300 None 1.000 8 2009 2015
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0.300 None 1.000 8 2009 2015
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
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
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: 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: 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: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 616 1 0.380 None 1.000 2 2006 2018
Hereditary non-polyposis colorectal cancer syndrome
disease Congenital Abnormality 27 0.300 None 1.000 1 2010 2010
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 4 0.450 None 1.000 1 1 2012 2018
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 14 5 0.310 None 1.000 1 2012 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 148 19 0.400 None 1.000 1 2006 2019
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 14 33 0.350 None 1.000 1 2006 2017
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
Adult Hepatocellular Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.300 None 1.000 1 2005 2005
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left
phenotype Cardiovascular Diseases Pathologic Function 30 0.300 None 1.000 1 2019 2019
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
phenotype Pathological Conditions, Signs and Symptoms Finding 165 0.300 None 1.000 1 2017 2017
CUI: C0205945
Disease: Sarcoma, Spindle Cell
Sarcoma, Spindle Cell
disease Neoplasms Neoplastic Process 14 1 0.300 None 1.000 1 2010 2010
CUI: C0205944
Disease: Sarcoma, Epithelioid
Sarcoma, Epithelioid
disease Neoplasms Neoplastic Process 14 0.300 None 1.000 1 2010 2010
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2012 2012
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2012 2012
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
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 52 182 0.500 None 1.000 1 29 2001 2020
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 29 30 0.450 None 1.000 1 2009 2019