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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
Autoimmune Interstitial Lung, Joint, and Kidney Disease (AILJK)
Alias:
Autoimmune Interstitial Lung Disease-Arthritis Syndrome
Copa Syndrome
Ailjk
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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
自身免疫性肺间质、关节和肾脏疾病,又称自身免疫性肺间质疾病-关节炎综合征,与肺间质疾病和肺部疾病有关。与自身免疫性肺间质、关节和肾脏疾病相关的重要基因是COPA(COPI包被复合物亚基α)。相关组织包括肺和肾脏,相关表型为限制性通气功能障碍和肺间质异常形态。
Related ID:
MALACARDS:ATM086
OMIM:616414
MESH:D001327
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
<1/1000000
1
2
4
ATM086
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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