DisGeNET - a database of gene-disease associations

melanoma, C0025202

Variant: rs1057519710 ×

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:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Imatinib for melanomas harboring mutationally activated or amplified KIT arising on mucosal, acral, and chronically sun-damaged skin.

23775962

2013

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

KIT as a therapeutic target in metastatic melanoma.

21642685

2011

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.

21690468

2011

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

KIT as a therapeutic target in metastatic melanoma.

21642685

2011

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Mutations in KIT occur at low frequency in melanomas arising from anatomical sites associated with chronic and intermittent sun exposure.

20088873

2010

dbSNP:

rs1057519710

KIT

0.710

GeneticVariation

BEFREE

Finally, we found significant growth suppressive effects of sunitinib in two acral melanoma cell lines; one harboring the D820Y mutation and one showing SCF-dependent KIT activation.

19035443

2009

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor.

18955458

2008

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412.

15790786

2005

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.

11276010

2001

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.

9438854

1998

dbSNP:

rs1057519710

KIT

0.710

CausalMutation

CLINVAR

Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines.

7530509

1995