Congenital Heart Defects, Multiple Types, 2 (CHTD2)

Alias:
Chtd2
Heart Defects, Congenital, Nonsyndromic, Type 2 (chtd2
Congenital Heart Defects, Nonsyndromic, 2
Congenital Heart Defects Non-Syndromic 2
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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
先天性心脏病,多种类型2,也称为chtod2,与骨盆器官脱垂和房间隔缺损2有关。与先天性心脏病,多种类型2相关的基因是TAB2(TGF-β激活激酶1(MAP3K7)结合蛋白2)。附属组织包括心脏和皮肤,相关表型为主动脉瓣反流和充血性心力衰竭。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
4
8

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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