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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Premature Ovarian Failure 17 (POF17)
Alias:
Pof17
Ovarian Failure, Premature, Type 17
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
早发性卵巢功能不全17,也被称为POF17。与早发性卵巢功能不全17相关的基因是XRCC2(X射线修复交叉补充2)。相关组织包括子宫,相关表型为早发性卵巢功能不全和血清雌二醇降低。
Related ID:
MALACARDS:PRM348
OMIM:619146
MESH:D016649
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
2
PRM348
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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