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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 54 (SPGF54)
Alias:
Spgf54
Spermatogenic Failure, Type 54
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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54,也被称为spgf54。与精子生成失败54相关的基因是CATIP(鞭毛形成相关TTC17相互作用蛋白)。相关表型包括男性不育和精子运动能力降低。
Related ID:
MALACARDS:SPR169
OMIM:619379
MESH:D007248
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
4
1
SPR169
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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