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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
Granulomatous Disease, Chronic, X-Linked (CGDX)
Alias:
Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease
Cgdx
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked
Granulomatous Disease, Chronic, X-Linked, Variant
Cdgx
Cgd
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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
X连锁慢性肉芽肿病,又名X连锁慢性肉芽肿病,与常染色体隐性遗传性慢性肉芽肿病4和常染色体隐性遗传性慢性肉芽肿病3有关。与X连锁慢性肉芽肿病相关的基因是CYBB(细胞色素B-245β链),其相关通路/超级通路包括信号转导和MHC I介导的抗原处理和呈递。在该疾病的背景下,已提到的药物有布洛芬和普雷克斯法。相关组织包括皮肤和骨髓,相关表型为肝肿大和发热。
Related ID:
MALACARDS:GRN051
OMIM:306400
MESH:D006105
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
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36
299
191
GRN051
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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