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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
Epidermodysplasia Verruciformis 1 (EV1)
Alias:
Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis, Susceptibility to, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis
Lewandowsky-Lutz Syndrome
Ev1
Epidermodysplasia Verruciformis, Susceptibiity to 1
Ev
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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
表皮角化病瘤样1,也称为表皮角化病瘤样病,与皮肤癌和糠秕孢子菌毛囊炎有关,症状包括身体上的病变。与表皮角化病瘤样1相关的基因是TMC6(跨膜通道样6),其相关通路/超级通路包括氨基糖苷类耳毒性通路、不良药物反应通路。在该疾病的背景下,已提到的药物包括乙醇和甘醇酸。附属组织包括皮肤和骨髓,相关表型为免疫系统异常和脂溢性皮炎。
Related ID:
MALACARDS:EPD083
OMIM:226400
MESH:D004819
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
--
50
614
17
EPD083
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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