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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
Achromatopsia 4 (ACHM4)
Alias:
Achm4
Achromatopsia, Type 4
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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
无色视症4,也称为achm4,与视锥细胞营养不良和无色视症有关。与无色视症4有关的重要基因是GNAT2(G蛋白亚基α转导素2),其相关通路/超通路包括视网膜棒状体的视觉周期和神经功能中的磷酸二酯酶。附属组织包括视网膜,相关表型为眼震和视力障碍。
Related ID:
MALACARDS:ACH023
OMIM:613856
MESH:C564206
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
44
8
ACH023
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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