Source: UNIPROT ×
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: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases Congenital Abnormality 1 19 1.000 definitive 0.972 4 19 2003 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 13 12 1.000 None 0.983 0 1 1986 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 460 370 0.700 None 0.976 4 5 2002 2020
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 10 14 0.700 None 1.000 1 2 2002 2019
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3 		disease Disease or Syndrome 1 1 0.700 None 1.000 1 1 2006 2013
CUI: C3150970
Disease: NOONAN SYNDROME 7
NOONAN SYNDROME 7 		disease Disease or Syndrome 1 2 0.700 None 1.000 1 2 2006 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 15 31 0.600 None 0.941 0 1 2003 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 54 41 0.600 None 1.000 0 3 2011 2019
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 4 0.420 None 1.000 1 3 2003 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 11 0.400 None 0.971 0 2 2003 2019