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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
Bleeding Disorder, Platelet-Type, 18 (BDPLT18)
Alias:
Platelet-Type Bleeding Disorder 18
Bdplt18
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency
Bleeding Disorder Due to Caldag-Gefi Deficiency
Bleeding Disorder, Platelet Type 18
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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
出血障碍,血小板型,18,又称血小板型出血障碍18,与白细胞粘附缺陷型1和血小板无力症有关。与出血障碍,血小板型,18有关的重要基因是RASGRP2(RAS鸟苷酸释放蛋白2),其相关通路/超级通路包括信号转导和对血小板胞质内Ca2+升高的反应。附属组织包括骨髓和骨,相关表型为鼻出血和易瘀伤。
Related ID:
MALACARDS:BLD126
OMIM:615888
MESH:D001791
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
8
62
5
BLD126
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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