DisGeNET - a database of gene-disease associations

GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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:

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:

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:

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:

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:

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

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

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:

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:

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

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:

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

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:

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:

rs63751220

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

CUI:	C1861689
Disease:

KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

0.710

GeneticVariation

UNIPROT

dbSNP:

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:

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:

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:

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:

rs1554571225

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

CUI:	C4693531
Disease:

MULTIPLE SYNOSTOSES SYNDROME 4

0.700

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:

rs1554571225

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

CUI:	C4693531
Disease:

MULTIPLE SYNOSTOSES SYNDROME 4

0.700

GeneticVariation

UNIPROT

In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6.

29130651

2018

dbSNP:

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