EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Langer-Giedion 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: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.600 strong 1.000 13 1995 2018