Disease: Gastrointestinal Stromal Tumors ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.740 GeneticVariation BEFREE Although targeted therapy involving tyrosine kinase inhibitors (TKIs) such as imatinib mesylate is highly effective for gastrointestinal stromal tumor carrying V560G c-kit mutation, it does not show much potential for targeting wild-type KIT (WT-KIT). 26428235 2016
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.740 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557 2009
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.740 GeneticVariation CLINVAR The aberrant localization of oncogenic kit tyrosine kinase receptor mutants is reversed on specific inhibitory treatment. 19737976 2009
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.740 GeneticVariation BEFREE The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has only been seen rarely before and only in the somatic state in sporadic GISTs. 17566086 2007
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		A 0.740 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		G 0.740 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.740 GeneticVariation BEFREE Molecular study revealed a mutation at the juxtamembrane domain of exon 12 in PDGFRA gene with GTC to GAC transition at codon 561 (V561D), as shown in the previous mutational studies on gastrointestinal stromal tumor (GIST). 15894928 2005
dbSNP: rs121913521
rs121913521
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.740 GeneticVariation BEFREE The single missense mutation (Val560Asp) is very similar to the only other missense mutation reported in GISTs (Val599Asp). 10086344 1999