NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 13 1.000 None 0.968 31 13 1996 2019