Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | GeneticVariation | CLINVAR | Marked response to imatinib mesylate in metastatic acral lentiginous melanoma on the thumb. | 20545949 | 2011 |
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G | 0.700 | GeneticVariation | CLINVAR | Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. | 11276010 | 2001 |
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G | 0.700 | GeneticVariation | CLINVAR | Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. | 15790786 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | Somatic activation of KIT in distinct subtypes of melanoma. | 16908931 | 2006 |
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G | 0.700 | GeneticVariation | CLINVAR | Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. | 18510589 | 2008 |
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G | 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 |
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G | 0.700 | GeneticVariation | CLINVAR | KIT gene mutations and copy number in melanoma subtypes. | 18980976 | 2008 |
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G | 0.700 | GeneticVariation | CLINVAR | L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. | 17372901 | 2007 |
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G | 0.700 | GeneticVariation | CLINVAR | Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. | 9438854 | 1998 |