Gene-drug interactions (data source: DGIdb)
Gene Name Entrez ID Drug Name Chembl ID Interaction Types Sources publications

Variant-drug associations (data source: PharmGKB)
Gene Name Variant Alleles Chemical Phenotype Category Significance Notes Sentence Publications Annotation ID
EPAS1 rs12712973 A bevacizumab efficacy no Neovascular age-related macular degeneration. Response was based on the optical coherence tomography (OCT) metric of total retinal thickness (TRT). Change in TRT was calculated between baseline and after 3, 6, 9 or 12 months of treatment, depending on the patient. Eyes with TRT changes >= the 75th percentile were classified as responders; those with changes <= the 25th percentile were classified as nonresponders. Cases = responders; controls = nonresponders. p-value was Bonferroni-corrected for 482 tests (uncorrected p-value = 0.59). Allele A is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to allele C. 24070809 1184165267
EPAS1 rs1374749 A anthracyclines and related substances efficacy no Patients were women with HER2- breast cancer. SNPs in genes in the VEGF pathway were selected to be genotyped (170 plus 16 that were previously investigated for association with response to bevacizumab) and compared between women who received bevacizumab and women who did not. The response was "pathological complete response". This SNP was one of the top 10 SNPs to show association with response to bevacizumab, but did not remain associated after multiple testing correction. Allele A is not associated with response to anthracyclines and related substances, bevacizumab, cyclophosphamide, docetaxel, epirubicin and taxanes in women with Breast Neoplasms as compared to allele G. 26100253 1447813817
EPAS1 rs3768728 C anthracyclines and related substances efficacy no Patients were women with HER2- breast cancer. SNPs in genes in the VEGF pathway were selected to be genotyped (170 plus 16 that were previously investigated for association with response to bevacizumab) and compared between women who received bevacizumab and women who did not. The response was "pathological complete response". This SNP was one of the top 10 SNPs to show association with response to bevacizumab, but did not remain associated after multiple testing correction. Allele C is not associated with response to anthracyclines and related substances, bevacizumab, cyclophosphamide, docetaxel, epirubicin and taxanes in women with Breast Neoplasms as compared to allele T. 26100253 1447813811
EPAS1 rs4953344 C anthracyclines and related substances efficacy no Patients were women with HER2- breast cancer. SNPs in genes in the VEGF pathway were selected to be genotyped (170 plus 16 that were previously investigated for association with response to bevacizumab) and compared between women who received bevacizumab and women who did not. The response was "pathological complete response". This SNP was one of the top 10 SNPs to show association with response to bevacizumab, but did not remain associated after multiple testing correction. Allele C is not associated with response to anthracyclines and related substances, bevacizumab, cyclophosphamide, docetaxel, epirubicin and taxanes in women with Breast Neoplasms as compared to allele T. 26100253 1447813803
EPAS1 rs6726454 G bevacizumab efficacy no Neovascular age-related macular degeneration. Response was based on the optical coherence tomography (OCT) metric of total retinal thickness (TRT). Change in TRT was calculated between baseline and after 3, 6, 9 or 12 months of treatment, depending on the patient. Eyes with TRT changes >= the 75th percentile were classified as responders; those with changes <= the 25th percentile were classified as nonresponders. Cases = responders; controls = nonresponders. p-value was Bonferroni-corrected for 482 tests (uncorrected p-value = 0.004). Allele G is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to allele A. 24070809 1184165254
EPAS1 rs7589621 A bevacizumab efficacy no Neovascular age-related macular degeneration. Response was based on the optical coherence tomography (OCT) metric of total retinal thickness (TRT). Change in TRT was calculated between baseline and after 3, 6, 9 or 12 months of treatment, depending on the patient. Eyes with TRT changes >= the 75th percentile were classified as responders; those with changes <= the 25th percentile were classified as nonresponders. Cases = responders; controls = nonresponders. p-value was Bonferroni-corrected for 482 tests (uncorrected p-value = 0.014). Allele A is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to allele G. 24070809 1184165568
EPAS1 rs9679290 C bevacizumab efficacy no Neovascular age-related macular degeneration. Response was based on the optical coherence tomography (OCT) metric of total retinal thickness (TRT). Change in TRT was calculated between baseline and after 3, 6, 9 or 12 months of treatment, depending on the patient. Eyes with TRT changes >= the 75th percentile were classified as responders; those with changes <= the 25th percentile were classified as nonresponders. Cases = responders; controls = nonresponders. p-value was Bonferroni-corrected for 482 tests (uncorrected p-value = 0.002). Allele C is not associated with response to bevacizumab or ranibizumab in people with Macular Degeneration as compared to allele G. 24070809 1184165250