rs1057519704, KIT

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR "When a thymic carcinoma ""becomes"" a GIST." 23375402 2013
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 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 Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494 2011
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Impressive response with imatinib in a heavily pretreated patient with metastatic c-KIT mutated thymic carcinoma. 21969494 2011
Thymic Carcinoma
CUI: C0205969
Disease: Thymic Carcinoma
0.010 GeneticVariation BEFREE At molecular analysis, there were 4 c-KIT mutations (occurring in exon 11 V559A, L576P, Y553N and exon 17 D820E) in thymic carcinomas (typeC), but not in other tumor types (p=0.003). 28212996 2017