GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease BEFREE Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of "CTD-negative" families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). 23620759 2013
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 GeneticVariation disease UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 GeneticVariation disease UNIPROT GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS. 18425797 2008
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease BEFREE GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS. 18425797 2008
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND GDF6 knockout mice are best distinguished by fusion of carpals and tarsals and GDF6 knockdown in Xenopus results in a high incidence of anterior axial defects consistent with a role for GDF6 in the etiology, diversity, and variability of KFS. 18425797 2008
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND GDF6, a novel locus for a spectrum of ocular developmental anomalies. 17236135 2007
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 GeneticVariation disease BEFREE We have described four different KFS classes (KF1-4) within a comprehensive classification that addresses KFS genetic heterogeneity. 9880643 1998
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV. 3065353 1988
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 Biomarker disease CTD_human
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.730 CausalMutation disease CLINVAR