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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
Immunodeficiency 36 with Lymphoproliferation (IMD36)
Alias:
Immunodeficiency 36
Imd36
Activated Phosphoinositide 3-Kinase Delta Syndrome 2
Immunodeficiency, Type 36
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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
免疫缺陷36伴淋巴增殖,也称为免疫缺陷36,与免疫缺陷14a伴淋巴增殖、常染色体显性遗传和免疫缺陷14有关。与免疫缺陷36伴淋巴增殖有关的重要基因是PIK3R1(磷脂酰肌醇-3激酶调节亚基1),其相关通路/超级通路包括VEGF通路(Tocris)和mTOR通路。相关组织包括B细胞和T细胞,相关表型包括反复上呼吸道感染和自身免疫。
Related ID:
MALACARDS:IMM283
OMIM:616005
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
66
24
IMM283
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
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Publications
No data available
References Literature
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IF
No Data Found!
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