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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
Bombay Phenotype
Alias:
Bombay Phenotype, Digenic
[bombay Phenotype]
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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
孟买表型,又称孟买表型,与胎儿母体同种免疫性溶血病和遗传性中性粒细胞增多症有关。与孟买表型有关的重要基因是FUT1(Fucosyltransferase 1(H血型)),其相关通路/超级通路包括糖胺聚糖代谢和糖脂生物合成的超级通路。附属组织包括胎盘和中性粒细胞。
Related ID:
MALACARDS:BMB001
OMIM:616754
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
18
15
BMB001
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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