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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, Y-Linked, 2 (SPGFY2)
Alias:
Spermatogenic Failure, Nonobstructive, Y-Linked
Spgfy2
Y-Linked Spermatogenic Failure 2
Nonobstructive Y-Linked Spermatogenic Failure
Spermatogenic Failure Nonobstructive Y-Linked
Non-Obstructive Azoospermia and Infertility
Oligozoospermia, Nonobstructive, Y-Linked
Oligozoospermia Non-Obstructive Y-Linked
Spermatogenic Failure, Y-Linked, Type 2
Oligospermia, Nonobstructive, Y-Linked
Azoospermia, Nonobstructive, Y-Linked
Oligospermia Non-Obstructive Y-Linked
Azoospermia Non-Obstructive Y-Linked
Spermatogenic Failure Y-Linked 2
Spermatogenic Arrest, Y-Linked
Spermatogenic Arrest Y-Linked
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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
精子发生障碍,Y连锁,2,也称为非梗阻性精子发生障碍,Y连锁,与46,xy性别反转1和精子发生障碍10有关。与精子发生障碍,Y连锁,2有关的重要基因是USP9Y(泛素特异性肽酶9Y连锁),其相关通路/超通路包括男性不育。附属组织包括睾丸,相关表型为无精子症和男性不育。
Related ID:
MALACARDS:SPR093
OMIM:415000
MESH:C564030
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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38
130
52
SPR093
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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