GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24
Disease: Multiple synostosis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation disease BEFREE Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. 25543012 2015
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation disease BEFREE We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5. 19956691 2009
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation disease BEFREE These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene. 16532400 2006
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GermlineCausalMutation disease ORPHANET These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene. 16532400 2006