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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
Immunodeficiency 8 with Lymphoproliferation (IMD8)
Alias:
Severe Combined Immunodeficiency Due to Coro1a Deficiency
Immunodeficiency 8
Imd8
Severe Combined Immunodeficiency Due to Coronin-1a Deficiency
Scid Due to Coronin-1a Deficiency
Scid Due to Coro1a Deficiency
Immunodeficiency, Type 8
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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8伴淋巴增生,又称因冠状缺陷导致的严重联合免疫缺陷,与免疫缺陷、常见变异8、自身免疫和自身免疫性疾病有关。与免疫缺陷8伴淋巴增生有关的重要基因是CORO1A(冠状蛋白1A)。相关组织包括T细胞和胸腺,相关表型包括胃食管反流和免疫缺陷。
Related ID:
MALACARDS:IMM281
OMIM:615401
MESH:D007153
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
2
27
7
IMM281
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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