DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs28933068 ×

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:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Muenke syndrome: An international multicenter natural history study.

26740388

2016

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

25931420

2015

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Executive Function and Adaptive Behavior in Muenke Syndrome.

26028288

2015

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.

24864036

2014

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

23378035

2013

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

23740942

2013

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Growth and development in thanatophoric dysplasia - an update 25 years later.

25356217

2013

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

22604720

2012

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

23165795

2012

dbSNP:

rs28933068

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

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Significant phenotypic variability of Muenke syndrome in identical twins.

19449410

2009

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Brain and bone abnormalities of thanatophoric dwarfism.

19098178

2009

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

18344207

2008

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Achondroplasia.

18328977

2008

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Achondroplasia: from genotype to phenotype.

17950653

2008

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.

18000976

2007

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

17935505

2007

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Mutations in different components of FGF signaling in LADD syndrome.

16501574

2006

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

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

17033969

2006

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

15241680

2004

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

12707965

2003

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Epidemiology and genetics of craniosynostosis.

10602123

2000

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

10777366

2000

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

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

9950359

1999

dbSNP:

rs28933068

FGFR3

0.700

CausalMutation

CLINVAR

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

10053006

1999