rs121913235, KIT

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation. 28710566 2018
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 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
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Structure and regulation of Kit protein-tyrosine kinase--the stem cell factor receptor. 16226710 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. 14977822 2004
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE This finding was validated in four separate tumors, two gastric and two intestinal, from a patient with familial GIST with a germ-line KIT W557R substitution. 15161681 2004
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. 10680913 2000
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region. 10224103 1999
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812 2012
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Activating c-KIT mutations in a subset of thymic carcinoma and response to different c-KIT inhibitors. 22357254 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 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
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 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
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. 19812602 2010
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. 18510589 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976 2008