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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
Chromosome 16p11.2 Duplication Syndrome
Alias:
Proximal 16p11.2 Microduplication Syndrome
Proximal Trisomy 16p11.2
Proximal Dup(16)(p11.2)
Autism, Susceptibility to, 14b
Autism 14b
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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
16p11.2染色体重复综合症,也被称为近端16p11.2微重复综合症,与16p11.2重复和周期性运动诱发肌张力障碍1有关。与16p11.2染色体重复综合症相关的重要基因是DUP16P11.2(16p11.2染色体重复综合症),其相关通路/超级通路包括16p11.2近端删除综合症。相关组织包括眼睛,相关表型为智力障碍和发育不良
Related ID:
MALACARDS:CHR498
OMIM:614671
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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6
29
18
CHR498
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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