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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
Braddock-Carey Syndrome 2 (BRDCS2)
Alias:
Brdcs2
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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
布拉德洛克-凯利综合症2,也被称为brdcs2。与布拉德洛克-凯利综合症2相关的基因是KIF15(微管动力蛋白家族成员15)。相关表型为听力障碍和小头畸形。
Related ID:
MALACARDS:BRD056
OMIM:619981
MESH:D010855
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
1
BRD056
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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