rs121913513, KIT

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE Transformed (L576P)KIT melanocytes showed downregulation of MITF expression characteristic of melanoma initiating cells (MICs). 26973244 2016
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR Sunitinib therapy for melanoma patients with KIT mutations. 22261812 2012
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
melanoma
CUI: C0025202
Disease: melanoma
0.760 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
0.760 CausalMutation CLINVAR Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy--case report and review of the literature. 19996579 2010
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE The overall frequency of activating KIT gene mutations in acral lentiginous/mucosal melanomas was 15% (14 out of 91 cases), being the L576P mutation in exon 11 the most frequently detected (4 of 14 cases). 19718013 2009
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. 19671763 2009
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR We have identified the first human melanoma cell line with an endogenous L576P mutation, the most common KIT mutation in melanoma ( approximately 30-40%). 19671763 2009
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR KIT gene mutations and copy number in melanoma subtypes. 18980976 2008
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE Evaluation of the DNA sequencing electropherograms from all 3 cases of L576P mutation-positive melanoma suggests a selective loss of the normal allele. 16647948 2006
melanoma
CUI: C0025202
Disease: melanoma
0.760 GeneticVariation BEFREE Interestingly, the exon 11-activating mutation was L576P, the same mutation that characterizes the rare c-kit mutation-positive cases of malignant melanoma. 16741525 2006
melanoma
CUI: C0025202
Disease: melanoma
0.760 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
0.760 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.760 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.760 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
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro). 27771813 2017
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE Sequencing of DNA extracted from tumor tissue of one of his GISTs revealed the KIT mutation in exon 11 (c.1727T>C). 23598963 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.730 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
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
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Mutational status of EGFR and KIT in thymoma and thymic carcinoma. 18448188 2008