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: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.020 GeneticVariation BEFREE A KIT mutation was identified in six cases (67%), including three with the D816V mutation typical of adult-onset disease, and another three with an internal tandem duplication (p.A502_Y503dup) in exon 9, previously described in gastrointestinal stromal tumour. 24128084 2014
dbSNP: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors 		0.020 GeneticVariation BEFREE Whereas KIT juxtamembrane domain mutations seen in most patients with GIST are highly sensitive to imatinib, the kinase activation loop mutant D816V, frequently encountered in SM, hampers the binding ability of imatinib. 16912224 2007