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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
Triokinase and Fmn Cyclase Deficiency Syndrome (TKFCD)
Alias:
Tkfcd
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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
三磷酸激酶和FMN环化酶缺陷综合征,也被称为tkfcd。与三磷酸激酶和FMN环化酶缺陷综合征相关的重要基因是TKFC(三磷酸激酶和FMN环化酶)。相关组织包括肝脏,相关表型包括白内障和肝肿大。
Related ID:
MALACARDS:TRK001
OMIM:618805
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
1
TRK001
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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