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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
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 (FTDALS4)
Alias:
Ftdals4
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-4
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis, 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
额颞叶痴呆和/或肌萎缩侧索硬化症4,也称为ftdals4,与肌萎缩侧索硬化症21和轴向脊柱骨骺发育不良有关。与额颞叶痴呆和/或肌萎缩侧索硬化症4有关的重要基因是TBK1(TANK结合激酶1),其相关通路/超级通路包括NF-kB(NFkB)通路和SARS-CoV-2先天性免疫逃避和细胞特异性免疫反应。附属组织包括颞叶和脊髓,相关表型为高反射和言语障碍。
Related ID:
MALACARDS:FRN045
OMIM:616439
MESH:D000690
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
10
95
20
FRN045
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
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Publications
No data available
References Literature
Title
PMID
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Year
IF
No Data Found!
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