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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
Blood Protein Disease
Alias:
Blood Protein Disorders
Blood Protein Disorder
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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
血蛋白疾病,又称为血蛋白紊乱,与镰状细胞病和未确定意义的单克隆免疫球蛋白血症有关。与血蛋白疾病相关的基因是MYOM2(肌球蛋白2),其相关通路/超级通路包括细胞质钙离子浓度升高反应和间充质干细胞和特异性标记物。在该疾病的背景下提到了硼替佐米和环磷酰胺。附属组织包括肝脏,相关表型是细胞和免疫系统。
Related ID:
MALACARDS:BLD054
MESH:D001796
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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45
605
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BLD054
Medical Symptom
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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
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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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