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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
Retinitis Pigmentosa 82 with or Without Situs Inversus (RP82)
Alias:
Retinitis Pigmentosa with or Without Situs Inversus
Rp82
Retinitis Pigmentosa, with/without Situs Inversus
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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82型,伴有或不伴有内脏转位,也称为视网膜色素变性伴有或不伴有内脏转位。与视网膜色素变性82型相关的基因是ARL2BP(ADP核糖基化因子样GTP酶2结合蛋白)。相关组织包括视网膜和眼睛,相关表型包括视力下降和视杆视锥细胞营养不良。
Related ID:
MALACARDS:RTN216
OMIM:615434
MESH:D012174
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
3
RTN216
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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