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卡马西平
临床注释ID
613978931
药物名称(英)
carbamazepine
变异单倍型
rs3812718
基因
SCN1A
证据级别
2B
水平覆盖
水平修饰符
表现型类别(英)
Dosage
表现型类别
剂量
分数
15.25
PMID计数
6
计数的证据
7
表现型
癫痫
表现型(英)
Epilepsy
最新日期
2021/3/24 0:00:00
URL
https://www.pharmgkb.org/clinicalAnnotation/613978931
专业人口(英)
专业人口
临床等位基因
id等位基因注释文本
892 TT Patients with the rs3812718 TT genotype who are treated with carbamazepine may require a higher dose as compared to patients with the CT or CC genotype. Other genetic and clinical factors may also influence dose of carbamazepine.
891 CT Patients with the rs3812718 CT genotype who are treated with carbamazepine may require a higher dose as compared to patients with the CC genotype but a lower dose as compared to patients with the TT genotype. Other genetic and clinical factors may also influence dose of carbamazepine.
890 CC Patients with the rs3812718 CC genotype who are treated with carbamazepine may require a lower dose as compared to patients with the CT or TT genotype. Other genetic and clinical factors may also influence dose of carbamazepine.
临床证据
id证据的ID总结
3305 613978592 Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.
3304 827823998 Genotype CT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.
3303 827823984 Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.
3302 982023304 Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.
3301 981500472 Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.
3300 1447678392 Genotypes CT + TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotype CC.
3299 1447678164 Genotype TT is associated with increased dose of carbamazepine in people with Epilepsy as compared to genotypes CC + CT.
临床病史
id类型评论
1323 Update CA score added as part of scoring system release. LOE assigned following curator review.
1322 Update Minor edits to phenotype descriptions
1321 Update Standardized text.
1320 Update Included the metabolism VA from PMID 26555147

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