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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
Erythrocytosis, Familial, 6 (ECYT6)
Alias:
Familial Erythrocytosis 6
Ecyt6
Erythrocytosis, Beta-Globin Type
Beta-Globin Type Erythrocytosis
Polycythemia, Beta-Globin Type
Beta-Globin Type Polycythemia
Erythrocytosis 6
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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
红细胞增多症6型,也称为家族性红细胞增多症6型,与镰状细胞病和相关疾病以及血红蛋白e-β地中海贫血综合征有关。与红细胞增多症6型相关的基因是HBB(血红蛋白亚基β),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和由细胞色素P450进行的氧化。附属组织包括肺,相关表型为红细胞增多症和血红蛋白浓度增加。
Related ID:
MALACARDS:ERY064
OMIM:617980
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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17
117
83
ERY064
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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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