Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation BEFREE Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. 25543012

2015
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation BEFREE We identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5. 19956691

2009
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GeneticVariation 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
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
CUI: C0175700
Disease: Multiple synostosis syndrome
Multiple synostosis syndrome 		0.330 GermlineCausalMutation 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