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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
Werner Syndrome (WRN)
Alias:
Adult Progeria
Ws
Werner's Syndrome
Wrn
Adult Premature Ageing Syndrome
Adult Premature Aging Syndrome
Werners Syndrome
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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
沃纳综合征,又称成人早衰症,与 xeroderma pigmentosum, complementation group g 和家族性视网膜母细胞瘤有关。沃纳综合征的一个重要基因是 WRN (WRN RecQ Like Helicase),其相关通路/超级通路包括基因表达(转录)和传染病。在该疾病的背景下提到了胰岛素和胰岛素,血红蛋白锌。附属组织包括皮肤和甲状腺,相关表型为白内障和矮小症。
Related ID:
MALACARDS:WRN001
OMIM:277700
MESH:D014898
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
青少年
1-9/1000000
37
572
124
WRN001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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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