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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 89 (RP89)
Alias:
Rp89
Retinitis Pigmentosa, Type 89
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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
RP89,也称为rp89,与色素性旁静脉性黄斑视网膜萎缩和老年-洛肯综合征有关。与RP89相关的基因是KIF3B(Kinesin家族成员3B),其相关通路/超通路包括巴德-毕德综合症和鞭毛病。相关表型为肝纤维化和二叶式主动脉瓣。
Related ID:
MALACARDS:RTN233
OMIM:618955
MESH:D012174
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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8
39
2
RTN233
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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