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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
Corneal Dystrophy, Groenouw Type I (CDGG1)
Alias:
Gcd1
Granular Corneal Dystrophy Type I
Corneal Dystrophy Groenouw Type I
Groenouw Corneal Dystrophy Type I
Cdgg1
Classic Granular Corneal Dystrophy
Granular Corneal Dystrophy Type 1
Granular Corneal Dystrophy 1
Classic Gcd
Gcdi
Corneal Dystrophy, Punctate or Nodular
Punctate or Nodular Corneal Dystrophy
Dystrophy, Corneal, Groenouw Type I
Granular Corneal Dystrophy, Type I
Corneal Dystrophy, Groenouw Type 1
Mesh; D003317
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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
角膜营养不良,Groenouw 型 I,也称为 gcd1,与散光和角膜营养不良,Reis-Bucklers 型有关。与角膜营养不良,Groenouw 型 I 有关的重要基因是 TGFBI(转化生长因子β诱导)。相关组织包括眼睛和角膜,相关表型为角膜结晶和中央角膜营养不良。
Related ID:
MALACARDS:CRN235
OMIM:121900
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
6
47
17
CRN235
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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