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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
Type Ii Collagen Disorders
Alias:
Collagen Ii
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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
I型II型胶原蛋白疾病,也称为胶原蛋白II型,与复发性多软骨炎和软骨疾病有关。与I型II型胶原蛋白疾病相关的重要基因是COL2A1(II型胶原α1链)。附属组织包括骨髓和骨骼。
Related ID:
MALACARDS:TYP042
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
19
45
TYP042
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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