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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 19q13.11 Deletion Syndrome
Alias:
19q13.11 Microdeletion Syndrome
Monosomy 19q13.11
Del(19)(q13.11)
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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
19q13.11缺失综合症,又称为19q13.11微缺失综合症,与19q13.11缺失综合症,远端和19q13.11缺失综合症,近端有关。与19q13.11缺失综合症相关的重要基因是ZNF181(锌指蛋白181)。附属组织包括皮肤,相关表型为智力障碍和发育不良
Related ID:
MALACARDS:CHR219
MESH:C567810
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
9
15
--
CHR219
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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