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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
Amyloidosis, Primary Localized Cutaneous, 2 (PLCA2)
Alias:
Plca2
Primary Localized Cutaneous Amyloidosis 2
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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
原发性局限性皮肤淀粉样变性2(Amyloidosis, Primary Localized Cutaneous, 2)也被称为plca2。与原发性局限性皮肤淀粉样变性2相关的基因是IL31RA(白介素31受体A)。相关组织包括皮肤,相关表型为瘙痒和皮肤淀粉样变性。
Related ID:
MALACARDS:AMY056
OMIM:613955
MESH:D028226
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
10
2
AMY056
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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