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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
Fanconi Anemia, Complementation Group T (FANCT)
Alias:
Fanconi Anemia Complementation Group T
Fanct
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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
范可尼贫血,补充组T,也称为范可尼贫血补充组T,与食管闭锁和范可尼贫血,补充组N有关。与范可尼贫血,补充组T有关的重要基因是UBE2T(泛素连接酶E2 T),其相关通路/超级通路包括先天免疫系统和免疫系统中的细胞因子信号通路。附属组织包括骨髓和骨,相关表型为贫血和血小板减少症。
Related ID:
MALACARDS:FNC052
OMIM:616435
MESH:D005199
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
11
58
2
FNC052
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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