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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 Q (FANCQ)
Alias:
Fanconi Anemia Complementation Group Q
Fancq
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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Q,也称为范可尼贫血补充组Q,与Xeroderma Pigmentosum,补充组F和Xeroderma Pigmentosum,变种类型有关。与范可尼贫血,补充组Q有关的重要基因是ERCC4(ERCC切除修复4,内切核酸酶催化亚基),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,相关表型为身材矮小和生长延迟。
Related ID:
MALACARDS:FNC047
OMIM:615272
MESH:D005199
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
14
65
25
FNC047
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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