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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
Disseminated Chorioretinitis
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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
播散性脉络膜视网膜炎与胸腺发育不良和T细胞免疫缺陷伴胸腺发育不全有关。与播散性脉络膜视网膜炎相关的基因是GNPTAB(N-乙酰葡萄糖胺-1-磷酸转移酶α和β亚基),其相关通路/超级通路包括维生素D受体在调节骨质疏松症相关基因中的作用和骨生成不全背景下I型胶原合成的转录作用。相关组织包括视网膜和眼睛,相关表型为稳态/代谢和肾/尿系统。
Related ID:
MALACARDS:DSS001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
133
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DSS001
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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