GPC6, glypican 6, 10082

N. diseases: 86; N. variants: 15
Disease: Micromelic dysplasia, congenital, with dislocation of radius ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936816
Disease: Micromelic dysplasia, congenital, with dislocation of radius
Micromelic dysplasia, congenital, with dislocation of radius 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 19481194 2009