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: 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: 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: rs140579014
rs140579014
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C2751307
Disease:
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 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: 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: 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: rs1554571213
rs1554571213
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
CUI: C0039093
Disease:
Congenital abnormal Synostosis 		0.010 GeneticVariation BEFREE Using genetic data obtained from a six-generation Chinese family, we identified a missense variant in GDF6 (NP_001001557.1; p.Y444N) that fully segregates with a novel autosomal dominant synostoses (SYNS) phenotype, which we designate as SYNS4. 26643732 2016