Source: ALL
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: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.010 None 1.000 1 1992 1992
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 1987 1987
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 1987 1987
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.020 None 1.000 2 1986 1986