DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Costello syndrome (disorder) ×

Gene: BRAF ×

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

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:	673
Gene Symbol:	BRAF

BRAF

B-Raf proto-oncogene, serine/threonine kinase

0.319

0.846

1.00

CUI:	C0587248
Disease:	Costello syndrome (disorder)

Costello syndrome (disorder)

disease

0.540

disputed

1.000

0

2006

2016