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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
Intestinal Disaccharidase Deficiency
Alias:
Disaccharidase 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
小肠双糖酶缺乏症,也称为双糖酶缺乏症,与蔗糖异麦芽酶缺乏症、先天性和残留性开角型青光眼有关。与小肠双糖酶缺乏症相关的重要基因是MGAM(麦芽糖-葡萄糖苷酶),其相关通路/超级通路包括潜在SUMO-1途径和细胞周期_前期染色体凝集。相关表型是减少的乳头状体形成。
Related ID:
MALACARDS:INT043
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
76
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INT043
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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