DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Craniofacial dysostosis type 1 ×

Gene: FGFR2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

fibroblast growth factor receptor 2

0.380

0.808

1.00

CUI:	C2931196
Disease:	Craniofacial dysostosis type 1

Craniofacial dysostosis type 1

disease

0.800

None

1.000

0

1994

2019