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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
Nodular Tenosynovitis
Alias:
Synovioma, Benign
Localized Giant Cell Tumor of Tenosynovium
Giant Cell Tumor of Tendon Sheath
Benign Tumor of Synovium
Benign Synovioma
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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
结节性腱鞘炎,又称腱鞘瘤,良性,与恶性巨细胞瘤和腱鞘巨细胞瘤有关。与结节性腱鞘炎相关的重要基因是COL6A3(胶原蛋白VIα3链),其相关通路/超级通路包括先天免疫系统和淋巴细胞与非淋巴细胞之间的免疫调节相互作用。在该疾病的背景下提到了抗体和免疫球蛋白。附属组织包括骨,相关表型是减少的乳腺泡形成。
Related ID:
MALACARDS:NDL002
MESH:D000070779
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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18
154
--
NDL002
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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