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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 6 (FTDALS6)
Alias:
Amyotrophic Lateral Sclerosis Type 14
Ftdals6
Als14
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia, Formerly
Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia
Amyotrophic Lateral Sclerosis, with or Without Frontotemporal Dementia
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis, Type 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-6
Amyotrophic Lateral Sclerosis 14
Als14, Formerly
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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6,也被称为肌萎缩侧索硬化14,与痴呆和侧索硬化有关。与额颞叶痴呆和/或肌萎缩侧索硬化6有关的重要基因是VCP(Valosin Containing Protein),其相关通路/超级通路包括肌萎缩侧索硬化(ALS)。相关组织包括颞叶和脊髓,相关表型为肌肉无力和肌纤维1型占优势。
Related ID:
MALACARDS:FRN060
OMIM:613954
MESH:D000690
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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14
168
64
FRN060
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
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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