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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
非罕见病
Autoimmune Disease 1 (AIS1)
Alias:
Autoimmune Disease, Susceptibility to, 1
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2
Vamas2
Ais1
Autoimmune Disease Susceptibility Locus, Chromosome 1p-Related
Autoimmune Disease Susceptibility Locus Chromosome 1p-Related
Vitiligo-Associated Multiple Autoimmune Disease Type 2
Autoimmune Disease, Susceptibility to, Type 1
Autoimmune Disease Susceptibility 1
Autoimmune Diseases
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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
自身免疫疾病1,也称为自身免疫疾病易感性1,与色素失调相关多系统自身免疫疾病易感性1和婴儿期多系统自身免疫疾病1有关。与自身免疫疾病1有关的重要基因是FOXD3(叉头盒D3)。在该疾病的背景下提到了利迪帕韦和索非布韦。附属组织包括T细胞和骨髓,相关表型为色素失调和桥本甲状腺炎。
Related ID:
MALACARDS:ATM052
OMIM:607836
MESH:D001327
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
16
4
ATM052
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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