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Genes (19)
Species: human : 19 | |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | Title:UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer|Association:Y|Conclusion:The role of the UGT1A1 genotype as a predictor of toxicity in cancer patients receiving irinotecan demands the performance of a randomized trial to ascertain whether genotype-adjusted dosages of the drug can help to establish safe and effective doses not only for patients with the UGT1A1(*)28 homozygous genotype but also for those with the most common UGT1A1 6/6 or 6/7 genotype. Title:Phase I pharmacokinetic, food effect, and pharmacogenetic study of oral irinotecan given as semisolid matrix capsules in patients with solid tumors.|Association:Not Found|Conclusion:For oral irinotecan, a dose of 70 mg/m(2)/day for 5 consecutive days every 3 weeks is recommended for further studies. Delayed diarrhea was the main DLT, similar to that observed with intravenously administered irinotecan. This study confirms that oral administration of irinotecan is feasible and may have favorable pharmacokinetic characteristics. | Human | TPMT | 7172 | thiopurine S-methyltransferase | Title:The impact of thiopurine S-methyltransferase polymorphisms on azathioprine dose 1 year after renal transplantation|Association:Y|Conclusion:We concluded that when azathioprine is administered at an initial dose of 1.5 mg/kg per day, both coding and promoter TPMT polymorphisms influence the dose tolerated. Title:Thiopurine methyltransferase (TPMT) heterozygosity and enzyme activity as predictive tests for the development of azathioprine-related adverse events.|Association:Y|Conclusion:The positive predictive value of genotyping was low, but the likelihood ratio for developing either haematological or hepatotoxicity by identifying TPMT heterozygosity, was 9.75. In our patient population this translates into an improvement from a pre-test probability of developing haematological or hepatotoxicity of 11%, to a post-test level of 50%. Heterozygous patients may then be targeted for a more "tailored" increase in dosing and regular laboratory monitoring. | Human | SLC19A1 | 6573 | solute carrier family 19 (folate transporter), member 1 | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Not Found|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | SLC6A3 | 6531 | solute carrier family 6 (neurotransmitter transporter), member 3 | Title:Dopamine transporter gene associated with diminished subjective response to amphetamine.|Association:Y|Conclusion:The current findings have important implications for understanding the genetic determinants of variability in stimulant response and risk of abuse. | Human | SHMT1 | 6470 | serine hydroxymethyltransferase 1 (soluble) | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Y|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | SELE | 6401 | selectin E | INFERRED, Score=800, UMLKSK CUI: C0013182 | Human | ABCB1 | 5243 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | Title:Variable expression of P-glycoprotein in the human placenta and its association with mutations of the multidrug resistance 1 gene (MDR1, ABCB1).|Association:Not Found|Conclusion:Taken together, the MDR1 polymorphisms C3435T and G2677T are associated with altered P-glycoprotein expression in the human placenta, and may have clinical consequences due to genetically determined, variable drug exposure of the fetus. | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | INFERRED, Score=800, UMLKSK CUI: C0013182 | Human | MTRR | 4552 | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Y|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | MTR | 4548 | 5-methyltetrahydrofolate-homocysteine methyltransferase | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Not Found|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | MTHFR | 4524 | methylenetetrahydrofolate reductase (NAD(P)H) | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Y|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | MTHFD1 | 4522 | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase | Title:Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.|Association:Not Found|Conclusion:In conclusion, polymorphisms in the folate-related genes MTHFR, MTRR, and SHMT1 are related to MTX resistance in pediatric ALL patients. | Human | MIF | 4282 | macrophage migration inhibitory factor (glycosylation-inhibiting factor) | INFERRED, Score=800, UMLKSK CUI: C0013182 | Human | ITPA | 3704 | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) | Title:Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population.|Association:Not Found|Conclusion:Allele frequencies of the 138G > A, 561G > A and 708G > A polymorphisms were 0.57, 0.18 and 0.06 respectively in the Japanese population, and with the exception of the 138G > A polymorphism, similar to allele frequencies in Caucasians. Title:Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase)|Association:Y|Conclusion:Polymorphism in the ITPA gene predicts AZA intolerance. Alternative immunosuppressive drugs, particularly 6-thioguanine, should be considered for AZA-intolerant patients with ITPase deficiency. | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | INFERRED, Score=800, UMLKSK CUI: C0013182 | Human | CYP2D6 | 1565 | cytochrome P450, family 2, subfamily D, polypeptide 6 | Title:Cytochrome p450 polymorphisms in geriatric patients: impact on adverse drug reactions--a pilotstudy.|Association:Not Found|Conclusion:In this investigation geriatric patients showed a high rate of ADRs. However, no association between the ADR rate and the patients' genotype could be detected, which most likely was a result of the small number of patient samples analysed.Although prophylactic genotyping would have not prevented ADRs in this pilot study, physicians nevertheless have to be aware of potential genetic mutations in patients with polypharmacy. | Human | CYP2C9 | 1559 | cytochrome P450, family 2, subfamily C, polypeptide 9 | Title:Cytochrome p450 polymorphisms in geriatric patients: impact on adverse drug reactions--a pilotstudy.|Association:Not Found|Conclusion:In this investigation geriatric patients showed a high rate of ADRs. However, no association between the ADR rate and the patients' genotype could be detected, which most likely was a result of the small number of patient samples analysed.Although prophylactic genotyping would have not prevented ADRs in this pilot study, physicians nevertheless have to be aware of potential genetic mutations in patients with polypharmacy. | Human | CYP2C8 | 1558 | cytochrome P450, family 2, subfamily C, polypeptide 8 | Title:The effect of the cytochrome P450 CYP2C8 polymorphism on the disposition of (R)-ibuprofen enantiomer in healthy subjects|Association:Not Found|Conclusion:Polymorphism of the CYP2C8 gene was found to be common, with nearly 30% of the population studied carrying the variant CYP2C8*3 allele. The presence of the latter caused a significant effect on the disposition of (R)-ibuprofen. This suggests that a substantial proportion of Caucasian subjects may show alterations in the disposition of drugs that are CYP2C8 substrates. | Human | CYP2C19 | 1557 | cytochrome P450, family 2, subfamily C, polypeptide 19 | Title:|Association:Not Found|Conclusion:Not Found |
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