DisGeNET - a database of gene-disease associations

FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141

Disease: Craniofacial dysostosis type 1 ×

Variant: rs1057519036 ×

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:

rs1057519036

rs1057519036

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C2931196
Disease:

Craniofacial dysostosis type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057519036

rs1057519036

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C2931196
Disease:

Craniofacial dysostosis type 1

C

0.800

CausalMutation

CLINVAR