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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
Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency
Alias:
Glycogen Storage Disease Type 9
Glycogenosis Due to Phosphorylase Kinase Deficiency
Glycogen Storage Disease Due to Phk Deficiency
Gsd Due to Phosphorylase Kinase Deficiency
Gycogenosis Due to Phk Deficiency
Glycogen Storage Disease Type Ix
Glycogenosis Type Ix
Glycogenosis Type 9
Gsd Type Ix
Gsd Type 9
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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
磷酸酶激酶缺乏引起的糖原贮积病,也称为糖原贮积病9型,与磷酸酶激酶缺乏和糖原贮积病ixa1有关。相关组织包括肝脏。
Related ID:
MALACARDS:GLY054
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
X染色体
X显
全年龄段
1-9/1000000
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--
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GLY054
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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