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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
Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)
Alias:
Autoimmune Lymphoproliferative Syndrome Type 4
Rald
Alps4
Ras-Associated Autoimmune Leukoproliferative Disease
Autoimmune Lymphoproliferative Syndrome, Type Iv
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic
Autoimmune Lymphoproliferative Syndrome Type Iv
Autoimmune Lymphoproliferative Syndrome 4
Alps Type Iv
Alps Type 4
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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
ras相关自身免疫性增殖性障碍,也称为自身免疫性淋巴增殖性综合征4型,与淋巴增殖性综合征和溶血性贫血有关。ras相关自身免疫性增殖性障碍相关的重要基因是nras(nras原癌基因,gtpase),其相关通路/超级通路包括erk信号通路和先天免疫系统。附属组织包括单核细胞和t细胞,相关表型包括反复呼吸道感染和反复感染
Related ID:
MALACARDS:RSS025
OMIM:614470
MESH:D056735
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
<1/1000000
19
294
22
RSS025
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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