rs121913517, KIT

N. diseases: 6
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
0.850 CausalMutation CLINVAR
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
0.700 CausalMutation CLINVAR
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. 24755198 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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
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 Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. 12960119 2003
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE CHMFL-KIT-031 showed potent inhibitory efficacy for KIT V559D mediated signaling pathways in cell and anti-tumor activity <i>in vivo</i> (Tumor Growth Inhibition: 68.5%). 29340041 2017
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. 18936790 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 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
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690 1998
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998