DisGeNET - a database of gene-disease associations

Movement Disorders, C0026650

Gene: BRAF ×

Source: INFERRED ×

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:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

The RASopathies.

23875798

2013

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

19206169

2009

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

18413255

2008

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

Neurological complications of cardio-facio-cutaneous syndrome.

18039235

2007

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

LEOPARD syndrome: clinical diagnosis in the first year of life.

16523510

2006

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

The cardiofaciocutaneous syndrome.

16825433

2006

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

Multiple lentigenes syndrome.

5771505

1969

dbSNP:

rs869025340

BRAF

0.700

CausalMutation

CLINVAR

Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

4386970

1968