DisGeNET - a database of gene-disease associations

Craniosynostosis, C0010278

Gene: FGFR3 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913105

FGFR3

0.710

GeneticVariation

BEFREE

Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.

10377013

1999

dbSNP:

rs121913105

FGFR3

0.710

CausalMutation

CLINVAR

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

18583390

2008

dbSNP:

rs121913105

FGFR3

0.710

CausalMutation

CLINVAR

Familial acanthosis nigricans due to K650T FGFR3 mutation.

17875876

2007

dbSNP:

rs121913105

FGFR3

0.710

CausalMutation

CLINVAR

Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.

26818779

2016

dbSNP:

rs121913105

FGFR3

0.710

CausalMutation

CLINVAR

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

11055896

2000

dbSNP:

rs121913113

FGFR3

0.700

CausalMutation

CLINVAR

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

17033969

2006

dbSNP:

rs121913113

FGFR3

0.700

CausalMutation

CLINVAR

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.

27139183

2016

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

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

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer.

17384684

2007

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.

11038465

2000

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.

25606676

2015

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.

11879084

2002

dbSNP:

rs121913483

FGFR3

0.700

CausalMutation

CLINVAR

Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.

19749790

2009

dbSNP:

rs121913485

FGFR3

0.700

CausalMutation

CLINVAR

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

8845844

1996

dbSNP:

rs121913485

FGFR3

0.700

CausalMutation

CLINVAR

Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.

19088846

2008

dbSNP:

rs121913485

FGFR3

0.700

CausalMutation

CLINVAR

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

24476948

2014

dbSNP:

rs121913485

FGFR3

0.700

CausalMutation

CLINVAR

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.

28249712

2017

dbSNP:

rs28928868

FGFR3

0.700

CausalMutation

CLINVAR

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

18583390

2008

dbSNP:

rs28928868

FGFR3

0.700

CausalMutation

CLINVAR

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

11055896

2000

dbSNP:

rs28928868

FGFR3

0.700

CausalMutation

CLINVAR

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

16912704

2006

dbSNP:

rs28928868

FGFR3

0.700

CausalMutation

CLINVAR

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.

20453470

2010

dbSNP:

rs28931614

FGFR3

0.700

CausalMutation

CLINVAR

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

25614871

2014

dbSNP:

rs28931614

FGFR3

0.700

CausalMutation

CLINVAR

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

25691418

2015

dbSNP:

rs28931614

FGFR3

0.700

CausalMutation

CLINVAR

Achondroplasia with synostosis of multiple sutures.

21739570

2011

dbSNP:

rs28931614

FGFR3

0.700

CausalMutation

CLINVAR

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

22045636

2012