GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease BEFREE Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. 26238661 2015
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 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: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease BEFREE Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6. 19864492 2010
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease BEFREE Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GermlineCausalMutation disease ORPHANET Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease CTD_human Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease LHGDN Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease HPO
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
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 GeneticVariation disease UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013