GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: MULTIPLE SYNOSTOSES SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease BEFREE In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. 29130651 2018
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease UNIPROT In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. 29130651 2018
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 CausalMutation disease CLINVAR A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. 26643732 2016
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease UNIPROT A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. 26643732 2016
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008