DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs113488022 ×

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

BRAF

CUI:	C0009402
Disease:	Colorectal Carcinoma

Colorectal Carcinoma

0.900

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.800

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

CUI:	C1275081
Disease:	Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome

0.710

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

CUI:	C2674727
Disease:	ASTROCYTOMA, LOW-GRADE, SOMATIC

ASTROCYTOMA, LOW-GRADE, SOMATIC

0.700

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

CUI:	C1266158
Disease:	Nongerminomatous Germ Cell Tumor

Nongerminomatous Germ Cell Tumor

0.700

CausalMutation

CLINVAR

dbSNP:

rs113488022

BRAF

CUI:	C0238198
Disease:	Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Tumors

0.800

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.800

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0009404
Disease:	Colorectal Neoplasms

Colorectal Neoplasms

0.790

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

0.750

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0919267
Disease:	ovarian neoplasm

ovarian neoplasm

0.750

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

0.750

CausalMutation

CLINVAR

Missense mutations of the BRAF gene in human lung adenocarcinoma.

12460919

2002

dbSNP:

rs113488022

BRAF

CUI:	C0684249
Disease:	Carcinoma of lung

Carcinoma of lung

0.750

CausalMutation

CLINVAR

BRAF and RAS mutations in human lung cancer and melanoma.

12460918

2002

dbSNP:

rs113488022

BRAF

CUI:	C1306459
Disease:	Primary malignant neoplasm

Primary malignant neoplasm

0.100

GeneticVariation

BEFREE

Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0006826
Disease:	Malignant Neoplasms

Malignant Neoplasms

0.100

GeneticVariation

BEFREE

Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation.

12068308

2002

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.

12447372

2003

dbSNP:

rs113488022

BRAF

CUI:	C0238463
Disease:	Papillary thyroid carcinoma

Papillary thyroid carcinoma

0.800

GeneticVariation

BEFREE

These resu</span>lts suggest that BRAF(V599E) mutation is frequent in the etiopathogenesis of PTC.

12881714

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.

14522897

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Determinants of BRAF mutations in primary melanomas.

14679157

2003

dbSNP:

rs113488022

BRAF

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.800

GeneticVariation

BEFREE

The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.

12917419

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

The activating V599E mutation accounted for 80% of all mutations detected in cutaneous melanoma cell lines.

12917419

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

Thus, when present, BRAF(V599E) appears to be essential for melanoma cell viability and transformation and, therefore, represents an attractive therapeutic target in the majority of melanomas that harbor the mutation.

14500344

2003

dbSNP:

rs113488022

BRAF

CUI:	C0151779
Disease:	Cutaneous Melanoma

Cutaneous Melanoma

0.800

GeneticVariation

BEFREE

The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.

14522897

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

Mutations in the BRAF gene causing a V599E amino acid substitution that enhance the kinase activity have been described in >60% of cutaneous melanomas and premalignant melanocytic lesions.

14522889

2003

dbSNP:

rs113488022

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

GeneticVariation

BEFREE

In addition we have searched for exon 15 BRAF mutations in 24 samples of secondary melanoma from 22 cases of sporadic melanoma and detected the 1796T>A BRAF mutation which leads to a substitution of valine by glutamic acid at position 599 (V599E) in six samples.

12619120

2003