DisGeNET - a database of gene-disease associations

Gastrointestinal Stromal Tumors, C0238198

Gene: KIT ×

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:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.

9697690

1998

dbSNP:

rs121913517

KIT

0.850

CausalMutation

CLINVAR

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

BEFREE

The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated.

16185297

2005

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

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

9438854

1998

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.

23582185

2013

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

An update on molecular genetics of gastrointestinal stromal tumours.

16731599

2006

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

25394175

2015

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.

11505412

2001

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.

22685257

2012

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

BEFREE

Its superior selectivity would make it a good pharmacological tool for further dissection of KIT V559D mediated pathology in the GISTs.

29340041

2017

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors.

15824741

2005

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

BEFREE

According to Western blot analysis, in imatinib-resistant GIST with both KIT V559D and BRAF V600E mutations, the inhibition of KIT V559D by imatinib caused a strong decrease of AKT phosphorylation, while ERK1/2 phosphorylation was not affected.

25182956

2015

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

BEFREE

Further comparison of localized GISTs in the MolecGIST cohort with advanced GISTs from previous clinical trials showed that the mutations of PDGFRA exon18 (D842V and others) as well as KIT exon11 substitutions (W557R and V559D) were more likely to be seen in patients with localized GISTs (odds ratio 7.9, 3.1, 2.7 and 2.5, respectively), while KIT exon 9 502_503dup and KIT exon 11 557_559del were more frequent in metastatic GISTs (odds ratio of 0.3 and 0.5, respectively).

21953054

2012

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

An update on molecular genetics of gastrointestinal stromal tumours.

16731599

2006

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

UNIPROT

Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.

23852704

2014

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.

17259998

2007

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

CLINVAR

An update on molecular genetics of gastrointestinal stromal tumours.

16731599

2006

dbSNP:

rs121913517

KIT

0.850

GeneticVariation

BEFREE

Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs.

17259998

2007

dbSNP:

rs121913512

KIT

0.760

GeneticVariation

BEFREE

Imatinib was efficient in GISTs with p.K642E mutation with a disease control rate superior to 90% whatever the sporadic or inherited origin of the tumour.

23648119

2013

dbSNP:

rs121913512

KIT

0.760

GeneticVariation

BEFREE

Here we have investigated Eng expression in the Kit(K641E) mouse GIST model, in human GIST and in the Ba/F3 cell model.

21435173

2012

dbSNP:

rs121913512

KIT

0.760

GeneticVariation

CLINVAR

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

25157968

2014

dbSNP:

rs121913512

KIT

0.760

GeneticVariation

BEFREE

We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal.

17824795

2007

dbSNP:

rs121913512

KIT

0.760

GeneticVariation

BEFREE

Here we characterized Ntsr1 mRNA and protein expression in the murine Kit(K641E) GIST model and in tissue microarrays of human GIST.

21364741

2011