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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
Visceral Neuropathy Familial
Alias:
Visceral Neuropathy, Familial
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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
内脏神经病家族性,也称为内脏神经病家族性1型和内脏神经病家族性2型,是一种与内脏神经病家族性1型和内脏神经病家族性2型相关的1号常染色体隐性遗传病。与内脏神经病家族性相关的基因包括ERBB2(Erb-B2受体酪氨酸激酶2),其相关通路/超级通路包括ARP-WASP复合物介导的肌动蛋白核化和NFAT和心肌肥厚。相关组织包括眼睛,相关表型包括生存率降低和shRNA丰度增加(Z-score>2)。
Related ID:
MALACARDS:VSC017
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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2
34
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VSC017
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation
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Gene
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Score
Mutations
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
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