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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
Raph Blood Group System (MER2)
Alias:
Mer2 Blood Cell Antigen Expression
Blood Group System, Raph
Mer2
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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
Raph 血型系统,又称 mer2 血细胞抗原表达,与 Alport 综合征 3a、常染色体显性遗传和单纯性大疱性表皮松解症 7 有关,伴有肾病和耳聋。与 Raph 血型系统有关的重要基因是 CD151(CD151 分子(Raph 血型))。附属组织包括肾脏和皮肤。
Related ID:
MALACARDS:RPH001
OMIM:179620
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
9
4
RPH001
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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