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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
Chromosome 14q32 Duplication Syndrome, 700-Kb
Alias:
14q32 Duplication Syndrome
Predisposition to Adult-Onset Myeloproliferative Neoplasm Due to 14q32 Duplication
Myeloproliferative Neoplasms, Familial, Susceptibility to
Myeloproliferative Neoplasms, Familial
Trisomy 14q32
Dup(14)q(32)
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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
14q32重复综合症,700-Kb,也被称为14q32重复综合症,与额间距增宽和大脑半球缺失有关。与14q32重复综合症,700-Kb相关的重要的基因是DUP14Q32(家族性髓系增殖性疾病易感性)。相关组织包括髓系,相关表型包括骨髓纤维化和急性髓系白血病。
Related ID:
MALACARDS:CHR673
OMIM:616604
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
--
--
1
CHR673
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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