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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
Premature Ovarian Failure 19 (POF19)
Alias:
Pof19
Primary Ovarian Insufficiency 19
Ovarian Failure, Premature, Type 19
Poi19
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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
19号早发性卵巢功能不全,也称为pof19,与纤溶缺陷和网状血管炎有关。与19号早发性卵巢功能不全相关的基因是HSF2BP(热休克转录因子2结合蛋白),其相关通路/超通路包括翻译、胰岛素调节翻译和细胞粘附_ECM重塑。相关表型为早发性卵巢功能不全和女性不育。
Related ID:
MALACARDS:PRM368
OMIM:619245
MESH:D016649
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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9
87
1
PRM368
Medical Symptom
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No data available
Gene & Mutation
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Name
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Name
MGI
Related Gene
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