HSPG2, heparan sulfate proteoglycan 2, 3339

N. diseases: 405; N. variants: 11
Disease: Schwartz-Jampel Syndrome ×
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: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.880 strong 1.000 14 2 1999 2020