DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Brachycephaly ×

Gene: FGFR2 ×

Results per page

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.400

Biomarker

CTD_human

Syndromic craniosynostosis with elbow joint contracture.

16465081

2006

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.400

Biomarker

CTD_human

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

9605588

1998

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.400

Biomarker

CTD_human

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

8957519

1996

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.400

Biomarker

HPO