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当前位置:药药网 / 数据中心 / 临床注释-2,变异和临床注释数据
氟尿嘧啶
临床注释ID
1451275020
药物名称(英)
fluorouracil
变异单倍型
rs3918290
基因
DPYD
证据级别
1A
水平覆盖
水平修饰符
Rare Variant; Tier 1 VIP
表现型类别(英)
Other
表现型类别
其他
分数
207
PMID计数
23
计数的证据
27
表现型
表现型(英)
最新日期
2021/5/24 0:00:00
URL
https://www.pharmgkb.org/clinicalAnnotation/1451275020
专业人口(英)
Pediatric
专业人口
儿科
临床等位基因
id
等位基因
注释文本
904
TT
The T allele of rs3918290 is assigned no function by CPIC. Patients with the TT genotype may have decreased activity of DPYD as compared to patients with the CC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence catalytic activity of DPYD.
903
CT
The T allele of rs3918290 is assigned no function by CPIC. Patients with the CT genotype may have decreased activity of DPYD as compared to patients with the CC genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence catalytic activity of DPYD.
902
CC
The T allele of rs3918290 is assigned no function by CPIC. Patients with the CC genotype may have increased activity of DPYD as compared to patients with the CT or TT genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence catalytic activity of DPYD.
临床证据
id
证据的ID
总结
3374
1449165541
Genotype CT is associated with decreased clearance of fluorouracil in peripheral blood mononuclear cells as compared to genotype CC.
3373
1448605295
Genotype CT is associated with decreased activity of DPYD in peripheral blood mononuclear cells as compared to genotype CC.
3372
1448267629
Allele T is not associated with activity of DPYD.
3371
1447987751
Genotype TT is associated with decreased activity of DPYD when assayed with fluorouracil as compared to genotype CC.
3370
1445400130
Genotype CT is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotype CC.
3369
1450964980
Allele T is associated with decreased activity of DPYD as compared to allele C.
3368
1450960760
Allele T is associated with decreased activity of DPYD as compared to allele C.
3367
1450955720
Genotype CT is associated with decreased activity of DPYD.
3366
1450953420
Genotype CT is associated with decreased activity of DPYD as compared to genotype CC.
3365
1450952584
Genotype CT is not associated with decreased activity of DPYD.
3364
1450951541
Genotype CT is associated with decreased activity of DPYD as compared to genotype CC.
3363
1450951521
Genotype CT is associated with decreased activity of DPYD as compared to genotype CC.
3362
1450951440
Genotype CT is associated with decreased enzyme activity of DPYD as compared to genotype CC.
3361
1450951280
Genotype TT is associated with decreased Purine-Pyrimidine Metabolism, Inborn Errors as compared to genotype CC.
3360
1450950647
Genotype CT is associated with decreased activity of DPYD as compared to genotype CC.
3359
1450950560
Genotype CT is associated with decreased clearance of fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.
3358
1450950160
Genotypes CT + TT are associated with decreased activity of DPYD as compared to genotype CC.
3357
1450950020
Genotype CT is associated with increased likelihood of Purine-Pyrimidine Metabolism, Inborn Errors as compared to genotype CC.
3356
1450949680
Genotype CT is associated with decreased activity of DPYD as compared to genotype CC.
3355
1450945204
Genotype CT is associated with decreased activity of DPYD.
3354
1450945160
Genotype CT is associated with decreased activity of DPYD.
3353
827892647
Genotype CT is associated with decreased clearance of fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.
3352
827827351
Genotype TT is associated with Purine-Pyrimidine Metabolism, Inborn Errors.
3351
827825063
Genotype TT is associated with Purine-Pyrimidine Metabolism, Inborn Errors.
3350
827824632
Genotype CT is associated with decreased metabolism of fluorouracil in people with Neoplasms as compared to genotype CC.
3349
PA166104939
Annotation of DPWG Guideline for fluorouracil and DPYD
3348
PA166122686
Annotation of CPIC Guideline for fluorouracil and DPYD
临床病史
id
类型
评论
1335
Update
Added DPWG guideline as evidence
1334
Update
CA score added as part of scoring system release. LOE assigned following curator review.
1333
Update
Added conflicting evidence sentence.
1332
Update
Attached CPIC guideline and removed override. Added CPIC function and modified text.
1331
Create
Created
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