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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
Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)
Alias:
Autoimmune Lymphoproliferative Syndrome, Type Ii
Autoimmune Lymphoproliferative Syndrome Type 2a
Alps2a
Autoimmune Lymphoproliferative Syndrome Type Iia
Alps2
Autoimmune Lymphoproliferative Syndrome 2a
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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
自身免疫性淋巴增殖症,IIa型,又称自身免疫性淋巴增殖症,II型,与自身免疫性淋巴增殖症和淋巴增殖症有关。与自身免疫性淋巴增殖症,IIa型相关的重要基因是CASP10(Caspase 10),其相关通路/超级通路包括PAK通路和p75 NTR受体介导的信号转导。附属组织包括T细胞和平滑肌,相关表型包括脾肿大和肝肿大。
Related ID:
MALACARDS:ATM097
OMIM:603909
MESH:C565833
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
13
3
ATM097
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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