COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 19 0.730 None 1.000 8 8 1989 2017