氟尿嘧啶,临床注释-2,变异和临床注释数据

氟尿嘧啶

临床注释ID

1451275220

药物名称(英)

fluorouracil

变异单倍型

rs55886062

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

201.75

PMID计数

9

计数的证据

11

表现型

表现型(英)

最新日期

2021/5/24 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1451275220

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
1366	CC	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the CC genotype may have decreased DPYD activity as compared to patients with the AA genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence catalytic activity of DPYD.
1365	AC	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the AC genotype may have decreased DPYD activity as compared to patients with the AA genotype. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence catalytic activity of DPYD.
1364	AA	The C allele of rs55886062 is assigned a no function allele by CPIC. Patients with the AA genotype may have increased DPYD activity as compared to patients with the AC or CC 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
3148	1448605300	Genotype AC is associated with decreased activity of DPYD in peripheral blood mononuclear cells as compared to genotype AA.
3147	1448267612	Allele C is not associated with activity of DPYD.
3146	1447987724	Genotype CC is associated with decreased activity of DPYD when assayed with fluorouracil as compared to genotype AA.
3145	1450952540	Genotype AC is associated with decreased activity of DPYD as compared to genotype AA.
3144	1450965000	Allele C is associated with decreased activity of DPYD as compared to allele A.
3143	1450953540	Genotype AC is associated with decreased activity of DPYD as compared to genotype AA.
3142	1450950400	Genotype AC is associated with increased severity of Purine-Pyrimidine Metabolism, Inborn Errors as compared to genotype AA.
3141	1450949780	Genotype AC is associated with decreased activity of DPYD as compared to genotype AA.
3140	982009679	Genotype AC is associated with decreased DPD activity when exposed to fluorouracil in healthy individuals as compared to genotype AA.
3139	PA166104939	Annotation of DPWG Guideline for fluorouracil and DPYD
3138	PA166122686	Annotation of CPIC Guideline for fluorouracil and DPYD

临床病史

id	类型	评论
1516	Update	Added DPWG guideline as evidence
1515	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1514	Update	Attached CPIC guideline and removed override. Added CPIC function and modified text.
1513	Create	Created

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