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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
Freemartinism
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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
Freemartinism 与唐氏综合症和 45,x/46,xy 混合性性腺发育不全有关。与 Freemartinism 关联的重要基因是 AMELX (Amelogenin X-Linked),其相关通路/超通路包括哺乳动物性发育障碍。相关组织包括睾丸和肝脏,相关表型为生殖系统。
Related ID:
MALACARDS:FRM001
MESH:D005611
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
52
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FRM001
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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