DisGeNET - a database of gene-disease associations

Cutis Gyrata Syndrome of Beare And Stevenson, C1852406

Variant: rs1057519037 ×

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:

rs1057519037

FGFR2

0.700

CausalMutation

CLINVAR

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

25361936

2014

dbSNP:

rs1057519037

FGFR2

0.700

CausalMutation

CLINVAR

FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

23348274

2013

dbSNP:

rs1057519037

FGFR2

0.700

CausalMutation

CLINVAR

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

24127277

2013

dbSNP:

rs1057519037

FGFR2

0.700

CausalMutation

CLINVAR

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

7655462

1995