DisGeNET - a database of gene-disease associations

FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141

Disease: JACKSON-WEISS SYNDROME ×

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:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

UNIPROT

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

9677057

1998

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

UNIPROT

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

9385368

1997

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

UNIPROT

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

8644708

1996

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

UNIPROT

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

8528214

1995

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

BEFREE

We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.

7581378

1995

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

GeneticVariation

UNIPROT

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

7874170

1994

dbSNP:

rs121918492

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.810

CausalMutation

CLINVAR

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

CausalMutation

CLINVAR

Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing.

25361936

2014

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

CausalMutation

CLINVAR

FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

23348274

2013

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

CausalMutation

CLINVAR

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

24127277

2013

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

CausalMutation

CLINVAR

Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.

10874645

1999

dbSNP:

rs121918488

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

9677057

1998

dbSNP:

rs121918497

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

9677057

1998

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

9677057

1998

dbSNP:

rs121918488

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

9385368

1997

dbSNP:

rs121918497

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

9385368

1997

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

9385368

1997

dbSNP:

rs121918488

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

8644708

1996

dbSNP:

rs121918497

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

8644708

1996

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

8644708

1996

dbSNP:

rs121918488

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer.

8528214

1995

dbSNP:

rs121918497

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

8528214

1995

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

8528214

1995

dbSNP:

rs776587763

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

CausalMutation

CLINVAR

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

7655462

1995

dbSNP:

rs121918488

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0795998
Disease:

JACKSON-WEISS SYNDROME

0.800

GeneticVariation

UNIPROT

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

7874170

1994