GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554571213
rs1554571213
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C4693531
Disease:
MULTIPLE SYNOSTOSES SYNDROME 4 		0.800 GeneticVariation UNIPROT Further delineation of the GDF6 related multiple synostoses syndrome. 29130651 2018
dbSNP: rs1554571213
rs1554571213
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C4693531
Disease:
MULTIPLE SYNOSTOSES SYNDROME 4 		T 0.800 CausalMutation 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
dbSNP: rs1554571213
rs1554571213
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C4693531
Disease:
MULTIPLE SYNOSTOSES SYNDROME 4 		0.800 GeneticVariation 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
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
dbSNP: rs121909355
rs121909355
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
dbSNP: rs121909356
rs121909356
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs1401531865
rs1401531865
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs387906794
rs387906794
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs397514725
rs397514725
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		0.800 GeneticVariation UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs121909352
rs121909352
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 Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs121909355
rs121909355
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs121909356
rs121909356
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.800 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs121909352
rs121909352
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 		0.800 GeneticVariation UNIPROT Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909352
rs121909352
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909354
rs121909354
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909355
rs121909355
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909356
rs121909356
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1401531865
rs1401531865
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		R 0.800 CausalMutation CLINVAR
dbSNP: rs387906794
rs387906794
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		T 0.800 CausalMutation CLINVAR