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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
Parotitis
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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
腮腺炎与睾丸炎和弥漫性浸润性淋巴细胞综合征有关。与腮腺炎有关的重要基因是SPINK1(丝氨酸蛋白酶抑制剂Kazal型1),其相关通路/超通路包括先天性免疫系统和造血干细胞和特异性标记物。在该疾病的背景下提到了免疫因素和疫苗药物。附属组织包括唾液腺和骨髓,相关表型为稳态/代谢和免疫系统。
Related ID:
MALACARDS:PRT026
MESH:D010309
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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16
159
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PRT026
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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