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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 11 2005 2020
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.670 None 1.000 9 2012 2020
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.460 None 1.000 6 2015 2019
CUI: C0431121
Disease: Clear Cell Meningioma
Clear Cell Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 14 0.050 None 1.000 5 2014 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 0.750 4 2005 2016
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.040 None 0.750 4 2015 2018
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.040 None 0.750 4 2015 2018
Meningioma, benign, no ICD-O subtype
disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.040 None 0.750 4 2015 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.040 None 1.000 4 2013 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.030 None 1.000 3 2006 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 0.667 3 2014 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.030 None 1.000 3 2006 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 0.500 2 2016 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.020 None 1.000 2 2017 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2014 2019
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.020 None 1.000 2 2008 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.020 None 1.000 2 2008 2013
CUI: C0347515
Disease: Spinal Meningioma
Spinal Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 19 0.020 None 1.000 2 2013 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.020 None 1.000 2 2005 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2017 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.010 None 1.000 1 2015 2015
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2016 2016
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer
disease Neoplastic Process 65 0.010 None 1.000 1 2014 2014
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 362 24 0.010 None 1.000 1 2013 2013