DisGeNET - a database of gene-disease associations

Cutis Gyrata Syndrome of Beare And Stevenson, C1852406

Variant: rs121913478 ×

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:

rs121913478

FGFR2

0.810

GeneticVariation

BEFREE

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.

17449949

2007

dbSNP:

rs121913478

FGFR2

0.810

GeneticVariation

UNIPROT

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.

12000365

2002

dbSNP:

rs121913478

FGFR2

0.810

GeneticVariation

UNIPROT

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

8696350

1996

dbSNP:

rs121913478

FGFR2

0.810

CausalMutation

CLINVAR