GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909354
rs121909354
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs121909354
rs121909354
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
dbSNP: rs121909354
rs121909354
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR