rs121913506, KIT

N. diseases: 24
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
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation BEFREE Imatinib delays GIST xenograft growth despite the presence of the D816H resistance mutation. 23480638 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation CLINVAR Function of activation loop tyrosine phosphorylation in the mechanism of c-Kit auto-activation and its implication in sunitinib resistance. 20147452 2010
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.710 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 24289326 2014
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 CausalMutation CLINVAR The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. 23714533 2013
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
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725 2011
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 CausalMutation CLINVAR KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. 19164557 2009
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. 18955458 2008
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis. 16741525 2006
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
0.700 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
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
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254 2004
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
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 GeneticVariation UNIPROT Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072 1999
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
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
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
CUI: C4749139
Disease: MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
0.700 CausalMutation CLINVAR