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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
非罕见病
Pain Agnosia
Alias:
Analgesia
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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
疼痛无知觉,也被称为麻醉,与马尔西利综合症和周期性疼痛综合症,家族性,1有关。与疼痛无知觉相关的一个重要基因是OPRM1(阿片受体μ1),其相关通路/超级通路包括信号转导和G蛋白偶联受体下游信号转导。在该疾病的背景下,普鲁卡因和纳布芬已被提及。附属组织包括乳腺和大脑,相关表型为神经系统和稳态/新陈代谢。
Related ID:
MALACARDS:PNG002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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52
652
--
PNG002
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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