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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
Spermatogenic Failure (SPGF)
Alias:
Spermatogenic Failure, Susceptibility to
Spgf
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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
精子生成失败,也称为spgf,与精子生成失败10和精子生成失败5有关。与精子生成失败有关的重要基因是SOHLH1(精子生成和卵泡生成特异性基本螺旋-环-螺旋1),其相关通路/超通路包括初级卵巢功能不全。该疾病的药物治疗中提到了雌激素。相关组织包括睾丸和睾丸,相关表型包括内分泌/外分泌腺和细胞。
Related ID:
MALACARDS:SPR062
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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51
241
2
SPR062
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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