DisGeNET - a database of gene-disease associations

BRAF, B-Raf proto-oncogene, serine/threonine kinase, 673

N. diseases: 1228; N. variants: 107

Disease: Craniopharyngioma ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs113488022

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Recent insight in molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations.

31678973

2019

dbSNP:

rs121913377

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Recent insight in molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations.

31678973

2019

dbSNP:

rs113488022

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas.

30187175

2018

dbSNP:

rs121913377

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas.

30187175

2018

dbSNP:

rs113488022

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Here, we describe our treatment of a man age 39 years with multiply recurrent BRAF V600E craniopharyngioma using dabrafenib (150mg, orally twice daily) and trametinib (2mg, orally twice daily).

26498373

2016

dbSNP:

rs113488022

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

BRAF V600E mutations were solely found in the papCP subgroup and were not detectable in adaCP samples.

26927026

2016

dbSNP:

rs121913377

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

BRAF V600E mutations were solely found in the papCP subgroup and were not detectable in adaCP samples.

26927026

2016

dbSNP:

rs121913377

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Here, we describe our treatment of a man age 39 years with multiply recurrent BRAF V600E craniopharyngioma using dabrafenib (150mg, orally twice daily) and trametinib (2mg, orally twice daily).

26498373

2016

dbSNP:

rs113488022

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).

24413733

2014

dbSNP:

rs121913377

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

CUI:	C0010276
Disease:

Craniopharyngioma

0.050

GeneticVariation

BEFREE

Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors).

24413733

2014