Disease: Van Buchem disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease 		0.010 GeneticVariation disease BEFREE Mutation analysis of the complete coding region and flanking highly conserved sequences of SOST, evaluation of the presence of the 52-kb deletion associated with Van Buchem disease in Dutch patients and mutation analysis of exons 2-4 of LRP5, and the coding regions of DKK1 and KRM1 did not reveal any disease-causing mutations. 18538647 2008