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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
非罕见病
Balanitis
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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
巴兰尼特氏病与巴兰尼特氏病和巴兰尼特氏病有关。与巴兰尼特氏病相关的基因是TGM1(转谷氨酰胺酶1),其相关通路/超级通路包括葡萄糖/能量代谢和能量代谢整合。在该疾病的背景下提到了布洛芬和对乙酰氨基酚。附属组织包括皮肤和骨髓,相关表型为稳态/代谢和生长/大小/身体部位。
Related ID:
MALACARDS:BLN010
MESH:D001446
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
144
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BLN010
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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