rs121913685, KIT

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Comprehensive genomic analysis reveals clinically relevant molecular distinctions between thymic carcinomas and thymomas. 19861435 2009
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. 15930355 2005
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Thymic carcinoma with overexpression of mutated KIT and the response to imatinib. 15201427 2004
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
0.700 CausalMutation CLINVAR