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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
Amelogenesis Imperfecta, Type Iiic (AI3C)
Alias:
Ai3c
Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive
Amelogenesis Imperfecta, Type 3c
Amelogenesis Imperfecta Type 3c
Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type
Amelogenesis Imperfecta Type Iiic
Amelogenesis Imperfecta 3c
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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
牙釉质发育不全,类型IIIC,也称为AI3C,与牙釉质发育不全,成熟不良型,IIA5和牙釉质发育不全,类型IV有关。与牙釉质发育不全,类型IIIC相关的基因是RELT(RELT TNF受体),其相关通路/超级通路包括GABA B受体激活和CFTR活性的调节(正常和CF)。相关表型是牙齿的黄棕色变色和牙釉质发育不全。
Related ID:
MALACARDS:AML064
OMIM:618386
MESH:D000567
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
6
33
2
AML064
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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