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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
Retinitis Pigmentosa 37 (RP37)
Alias:
Rp37
Retinitis Pigmentosa, Type 37
Retinitis Pigmentosa-37
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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
视网膜色素变性37,也称为rp37,与视网膜锥体性黄斑病变3b和遗传性视网膜病变有关,症状包括畏光。与视网膜色素变性37相关的基因是NR2E3(核受体亚家族2组E成员3),其相关通路/超级通路包括NO/cGMP/PKG介导的神经保护。相关组织包括视网膜和眼睛,相关表型包括视力下降和夜盲症。
Related ID:
MALACARDS:RTN157
OMIM:611131
MESH:C567005
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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12
61
44
RTN157
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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
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IF
No Data Found!
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