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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
Okt4 Epitope Deficiency (OKT4D)
Alias:
T4 Epitope Deficiency
Okt4d
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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
Okt4表位缺陷,又名t4表位缺陷,与免疫缺陷病和人类免疫缺陷病毒1型有关。与Okt4表位缺陷有关的重要基因是CD4(CD4分子)。相关组织包括T细胞,相关表型为T细胞形态异常。
Related ID:
MALACARDS:OKT001
OMIM:613949
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
29
12
OKT001
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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