GPC6, glypican 6, 10082

N. diseases: 86; N. variants: 15
Disease: Omodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4510897
Disease: Omodysplasia
Omodysplasia 		0.020 GeneticVariation disease BEFREE Analyses of gene knockout models and the human conditions of Simpson-Golabi-Behmel syndrome and omodysplasia, which arise from mutations in glypican 3 (GPC3) and GPC6, respectively, highlight both subtle and striking effects of glypicans on bone growth. 23297043 2013
CUI: C4510897
Disease: Omodysplasia
Omodysplasia 		0.020 GeneticVariation disease BEFREE Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 19481194 2009