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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 a (FANCA)
Alias:
Fanconi Anemia
Fanconi Pancytopenia
Fanconi Anemia Complementation Group a
Fanca
Fa
Fanconi Panmyelopathy
Estren-Dameshek Variant of Fanconi Pancytopenia
Estren-Dameshek Variant of Fanconi Anemia
Fanconi Anemia Estren-Dameshek Variant
Fanconi Hypoplastic Anemia
Fanconi's Anaemia
Fanconi's Anemia
Fanconi Anaemia
Fanconis Anemia
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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a,也称为范可尼贫血,补充组q和范可尼贫血,补充组r,症状包括贫血苍白。与范可尼贫血,补充组a有关的重要基因是FANCA(FA补充组A),其相关通路/超级通路包括免疫系统中的细胞因子信号通路和同源导向修复。在该疾病的背景下提到了药物雷帕霉素和西罗莫司。附属组织包括血液、骨髓和骨,相关表型为身材矮小和贫血。
Related ID:
MALACARDS:FNC027
OMIM:227650
MESH:D005199
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X显
孩童期
1-9/1000000
284
2706
473
FNC027
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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