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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
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency
Alias:
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Dominant Msmd Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Dominant Msmd Due to Partial Ifngammar2 Deficiency
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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
常染色体显性遗传性结核病,由于部分干扰素γ受体2缺陷,也称为常染色体显性遗传性结核病,由于部分干扰素γ受体2缺陷。与常染色体显性遗传性结核病相关的基因是IFNGR2(干扰素γ受体2)。
Related ID:
MALACARDS:ATS105
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
1
7
--
ATS105
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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