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: 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
dbSNP: rs397514725
rs397514725
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3715164
Disease:
LEBER CONGENITAL AMAUROSIS 17 		G 0.800 CausalMutation CLINVAR
dbSNP: rs63751220
rs63751220
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.710 GeneticVariation UNIPROT
dbSNP: rs387906794
rs387906794
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3150968
Disease:
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		T 0.700 CausalMutation CLINVAR
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: rs63751220
rs63751220
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.710 GeneticVariation BEFREE Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. 18425797 2008
dbSNP: rs121909353
rs121909353
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
dbSNP: rs63751220
rs63751220
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C3278509
Disease:
Spinal fusion 		0.010 GeneticVariation BEFREE Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. 18425797 2008
dbSNP: rs63751220
rs63751220
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C0454455
Disease:
Mirror movements disorder 		0.010 GeneticVariation BEFREE Here we report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tarsal, and vertebral fusions. 18425797 2008
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: rs121909353
rs121909353
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C1861689
Disease:
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
dbSNP: rs140579014
rs140579014
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 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: 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