DisGeNET - a database of gene-disease associations

Brain Tumor, Primary, C0750974

Variant: rs113488022 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs113488022

BRAF

0.020

GeneticVariation

BEFREE

Dual BRAF/MEK inhibitor therapy represents an exciting treatment option for patients with BRAF V600E primary brain tumors.

31675726

2019

dbSNP:

rs113488022

BRAF

0.020

GeneticVariation

BEFREE

Numerous case reports in adult primary brain tumors with BRAF-V600E mutations demonstrate signals of BRAFi activity in the brain.

30265855

2018