Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 (CHINE1)

Alias:
Chine1
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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
白内障、听力障碍、肾病综合征和肠炎1,也被称为 chine1,与白内障、听力障碍、肾病综合征和肠炎2有关。与白内障、听力障碍、肾病综合征和肠炎1相关的基因是 DKC1(Dyskerin Pseudouridine Synthase 1)。附属组织包括骨髓和松果体。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
11
1

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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