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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
Retinitis Pigmentosa 41 (RP41)
Alias:
Rp41
Retinal Degeneration, Autosomal Recessive, Prominin-Related
Retinal Degeneration Autosomal Recessive Prominin-Related
Retinitis Pigmentosa, Type 41
Retinitis Pigmentosa-41
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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
视网膜色素变性41,也称为rp41,与恶性星形细胞瘤和ushers综合症,类型ig有关。与视网膜色素变性41有关的重要基因是PROM1(Prominin 1)。附属组织包括视网膜和眼睛,相关表型为视盘苍白和黄斑变性。
Related ID:
MALACARDS:RTN067
OMIM:612095
MESH:C567422
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
17
10
RTN067
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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