DisGeNET - a database of gene-disease associations

Source: ALL

Disease: melanoma ×

Variant: rs121913378 ×

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:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.

23524406

2013

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

BEFREE

V600R mutation and double (V600E -V600M) mutation were identified in two melanomas.In one case, V600K mutation was found.Two screening failures were noted.

23463675

2013

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer.

23833300

2013

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.

23031422

2012

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib.

22743296

2012

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib.

22649091

2012

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

CLINVAR

NRAS and BRAF mutation frequency in primary oral mucosal melanoma.

21750866

2011

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations.

21483012

2011

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines.

19238210

2009

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

CLINVAR

Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder.

19404918

2009

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Genetic predictors of MEK dependence in non-small cell lung cancer.

19010912

2008

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

Missense mutations of the BRAF gene in human lung adenocarcinoma.

12460919

2002

dbSNP:

rs121913378

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

CausalMutation

CLINVAR

BRAF and RAS mutations in human lung cancer and melanoma.

12460918

2002