DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: melanoma ×

Gene: BRAF ×

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:

rs1057519718

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF.

20141835

2010

dbSNP:

rs1057519718

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Determinants of BRAF mutations in primary melanomas.

14679157

2003

dbSNP:

rs1057519718

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs1057519720

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs1057519720

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

Analysis of BRAF mutation in primary and metastatic melanoma.

16096377

2005

dbSNP:

rs121913225

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913226

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913337

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

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

25157968

2014

dbSNP:

rs121913337

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Determinants of BRAF mutations in primary melanomas.

14679157

2003

dbSNP:

rs121913337

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Determinants of BRAF mutations in primary melanomas.

14679157

2003

dbSNP:

rs121913337

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs121913337

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs121913341

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913341

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913349

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913349

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma.

24918823

2014

dbSNP:

rs121913357

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913357

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913361

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913363

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma.

24710085

2015

dbSNP:

rs121913363

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913365

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913365

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913369

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

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

25157968

2014

dbSNP:

rs121913369

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

CausalMutation

CLINVAR

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

23833300

2013