Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.740 | GeneticVariation | BEFREE | Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma. | 30558566 | 2018 |
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0.740 | GeneticVariation | BEFREE | The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side. | 26368812 | 2015 |
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0.740 | GeneticVariation | BEFREE | Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas. | 26113083 | 2015 |
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C | 0.740 | CausalMutation | CLINVAR | Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. | 22653968 | 2012 |
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G | 0.740 | CausalMutation | CLINVAR | The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. | 22253748 | 2012 |
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A | 0.740 | CausalMutation | CLINVAR | The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. | 22253748 | 2012 |
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G | 0.740 | CausalMutation | CLINVAR | Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. | 22733540 | 2012 |
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G | 0.740 | CausalMutation | CLINVAR | Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. | 22808163 | 2012 |
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A | 0.740 | CausalMutation | CLINVAR | Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. | 22653968 | 2012 |
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0.740 | GeneticVariation | BEFREE | Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. | 22733540 | 2012 |
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C | 0.740 | CausalMutation | CLINVAR | Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. | 22808163 | 2012 |
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A | 0.740 | CausalMutation | CLINVAR | Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. | 22733540 | 2012 |
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G | 0.740 | CausalMutation | CLINVAR | Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. | 22653968 | 2012 |
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C | 0.740 | CausalMutation | CLINVAR | Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. | 22733540 | 2012 |
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C | 0.740 | CausalMutation | CLINVAR | The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. | 22253748 | 2012 |
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A | 0.740 | CausalMutation | CLINVAR | Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. | 22808163 | 2012 |
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A | 0.740 | CausalMutation | CLINVAR | Mutations in GNA11 in uveal melanoma. | 21083380 | 2010 |
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G | 0.740 | CausalMutation | CLINVAR | Mutations in GNA11 in uveal melanoma. | 21083380 | 2010 |
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C | 0.740 | CausalMutation | CLINVAR | Mutations in GNA11 in uveal melanoma. | 21083380 | 2010 |
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A | 0.740 | CausalMutation | CLINVAR | Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. | 19078957 | 2009 |
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G | 0.740 | CausalMutation | CLINVAR | Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. | 19078957 | 2009 |
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C | 0.740 | CausalMutation | CLINVAR | Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. | 19078957 | 2009 |
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C | 0.740 | CausalMutation | CLINVAR | Oncogenic mutations in GNAQ occur early in uveal melanoma. | 18719078 | 2008 |
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A | 0.740 | CausalMutation | CLINVAR | Oncogenic mutations in GNAQ occur early in uveal melanoma. | 18719078 | 2008 |
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G | 0.740 | CausalMutation | CLINVAR | Oncogenic mutations in GNAQ occur early in uveal melanoma. | 18719078 | 2008 |