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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
Autosomal Dominant Kenny-Caffey Syndrome
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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
常染色体显性肯尼-卡菲综合征与肯尼-卡菲综合征2型和脆弱骨发育不良有关。与常染色体显性肯尼-卡菲综合征有关的重要基因是FAM111A(FAM111 Trypsin Like Peptidase A)。相关组织包括骨和眼,相关表型为身材矮小和颅缝延迟闭合。
Related ID:
MALACARDS:ATS539
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
5
3
ATS539
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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