DisGeNET - a database of gene-disease associations

FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55

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:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

7847369

1995

dbSNP:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

7758520

1995

dbSNP:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

8078586

1994

dbSNP:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.

10611230

2000

dbSNP:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.

12297284

2002

dbSNP:

rs28931614

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.900

GeneticVariation

UNIPROT

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.

8599935

1996

dbSNP:

rs4647924

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1864436
Disease:

Muenke Syndrome

0.900

GeneticVariation

UNIPROT

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

11746040

2001

dbSNP:

rs4647924

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1864436
Disease:

Muenke Syndrome

0.900

GeneticVariation

UNIPROT

Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.

9950359

1999

dbSNP:

rs4647924

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1864436
Disease:

Muenke Syndrome

0.900

GeneticVariation

UNIPROT

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

9042914

1997

dbSNP:

rs78311289

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1300257
Disease:

Thanatophoric dysplasia, type 2

0.890

GeneticVariation

UNIPROT

FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.

12297284

2002

dbSNP:

rs78311289

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1300257
Disease:

Thanatophoric dysplasia, type 2

0.890

GeneticVariation

UNIPROT

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

7773297

1995

dbSNP:

rs78311289

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1300257
Disease:

Thanatophoric dysplasia, type 2

0.890

GeneticVariation

UNIPROT

Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).

8754806

1996

dbSNP:

rs28931615

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C2677099
Disease:

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)

0.870

GeneticVariation

UNIPROT

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.

7493034

1995

dbSNP:

rs28931615

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C2677099
Disease:

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)

0.870

GeneticVariation

UNIPROT

The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation.

17935505

2007

dbSNP:

rs121913105

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C2674173
Disease:

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

0.850

GeneticVariation

UNIPROT

We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.

10053006

1999

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.

12297284

2002

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

7758520

1995

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.

8078586

1994

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

7847369

1995

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.

10611230

2000

dbSNP:

rs75790268

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C0001080
Disease:

Achondroplasia

0.850

GeneticVariation

UNIPROT

Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.

8599935

1996

dbSNP:

rs121913105

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1868678
Disease:

THANATOPHORIC DYSPLASIA, TYPE I (disorder)

0.840

GeneticVariation

UNIPROT

Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.

10671061

1998

dbSNP:

rs121913105

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1868678
Disease:

THANATOPHORIC DYSPLASIA, TYPE I (disorder)

0.840

GeneticVariation

UNIPROT

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.

10360402

1999

dbSNP:

rs121913105

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1868678
Disease:

THANATOPHORIC DYSPLASIA, TYPE I (disorder)

0.840

GeneticVariation

UNIPROT

G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.

9790257

1998

dbSNP:

rs121913105

Entrez Id:	2261
Gene Symbol:	FGFR3

FGFR3

CUI:	C1868678
Disease:

THANATOPHORIC DYSPLASIA, TYPE I (disorder)

0.840

GeneticVariation

UNIPROT

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

8589699

1995