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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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非罕见病
Mutism
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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
缄默症与假性缄默症和埃康莫氏病有关,症状包括失音、睡眠障碍和畏光。与缄默症有关的重要基因是SHANK3(SH3 And Multiple Ankyrin Repeat Domains 3),其相关通路/超级通路包括神经科学和涉及-分泌酶的神经退行性疾病。在该疾病的背景下提到了氟西汀和神经递质药物。相关组织包括大脑和小脑,相关表型是shRNA丰度增加(Z-score > 2)和神经系统。
Related ID:
MALACARDS:MTS001
MESH:D009155
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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23
371
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MTS001
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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