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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
Cerebral Cavernous Malformations 4 (CCM4)
Alias:
Cerebral Cavernous Malformations 4, Somatic
Cerebral Cavernous Malformation 4
Ccm4
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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
脑静脉畸形4,又称脑静脉畸形4,与胃淋巴瘤和胃溃疡有关。与脑静脉畸形4有关的重要基因是PIK3CA(磷脂酰肌醇-4,5-二磷酸3激酶催化亚基α)。附属组织包括大脑和乳腺,相关表型为脑静脉畸形。
Related ID:
MALACARDS:CRB226
OMIM:619538
MESH:D020786
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
21
10
CRB226
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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