DisGeNET - a database of gene-disease associations

GDF5, growth differentiation factor 5, 8200

N. diseases: 238; N. variants: 24

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:

rs397514668

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832702
Disease:

BRACHYDACTYLY, TYPE A2

0.810

GeneticVariation

UNIPROT

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

21976273

2012

dbSNP:

rs397514668

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832702
Disease:

BRACHYDACTYLY, TYPE A2

0.810

GeneticVariation

BEFREE

We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals.

18203755

2008

dbSNP:

rs397514668

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832702
Disease:

BRACHYDACTYLY, TYPE A2

0.810

GeneticVariation

UNIPROT

18203755

2008

dbSNP:

rs397514668

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832702
Disease:

BRACHYDACTYLY, TYPE A2

0.810

GeneticVariation

UNIPROT

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

16127465

2005

dbSNP:

rs397514668

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832702
Disease:

BRACHYDACTYLY, TYPE A2

0.810

CausalMutation

CLINVAR

dbSNP:

rs28936397

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1862103
Disease:

Brachydactyly type C

0.800

GeneticVariation

UNIPROT

Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

25820810

2015

dbSNP:

rs28936397

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1862103
Disease:

Brachydactyly type C

0.800

GeneticVariation

UNIPROT

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

25092592

2014

dbSNP:

rs121909347

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

24098149

2013

dbSNP:

rs397514519

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3554446
Disease:

BRACHYDACTYLY, TYPE A1, C

0.800

GeneticVariation

UNIPROT

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

24098149

2013

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

24098149

2013

dbSNP:

rs121909347

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

21976273

2012

dbSNP:

rs28936397

Entrez Id:	8200
Gene Symbol:	GDF5

GDF5

CUI:	C1862103
Disease:

Brachydactyly type C

0.800

GeneticVariation

UNIPROT

"A novel mutation in CDMP1 causes brachydactyly type C with ""angel-shaped phalanx"". A genotype-phenotype correlation in the mutational spectrum."

22828468

2012

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.

21976273

2012

dbSNP:

rs397514519

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3554446
Disease:

BRACHYDACTYLY, TYPE A1, C

0.800

GeneticVariation

UNIPROT

Mutations in GDF5 presenting as semidominant brachydactyly A1.

20683927

2010

dbSNP:

rs121909347

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

19956691

2009

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

19956691

2009

dbSNP:

rs121909349

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3809104
Disease:

SYMPHALANGISM, PROXIMAL, 1B

0.800

GeneticVariation

UNIPROT

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

18283415

2008

dbSNP:

rs121909350

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1856738
Disease:

Fibular hypoplasia and complex brachydactyly

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

18629880

2008

dbSNP:

rs121909351

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1856738
Disease:

Fibular hypoplasia and complex brachydactyly

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

18629880

2008

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3809104
Disease:

SYMPHALANGISM, PROXIMAL, 1B

0.800

GeneticVariation

UNIPROT

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

18283415

2008

dbSNP:

rs74315389

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3809104
Disease:

SYMPHALANGISM, PROXIMAL, 1B

0.800

GeneticVariation

UNIPROT

Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

18283415

2008

dbSNP:

rs121909347

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

GDF5 is a second locus for multiple-synostosis syndrome.

16532400

2006

dbSNP:

rs121909349

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3809104
Disease:

SYMPHALANGISM, PROXIMAL, 1B

0.800

GeneticVariation

UNIPROT

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

16892395

2006

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C3809104
Disease:

SYMPHALANGISM, PROXIMAL, 1B

0.800

GeneticVariation

UNIPROT

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

16892395

2006

dbSNP:

rs74315388

Entrez Id:	8200;554250
Gene Symbol:	GDF5;GDF5-AS1

GDF5;GDF5-AS1

CUI:	C1832708
Disease:

MULTIPLE SYNOSTOSES SYNDROME 2

0.800

GeneticVariation

UNIPROT

GDF5 is a second locus for multiple-synostosis syndrome.

16532400

2006