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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
Holoprosencephaly 4 (HPE4)
Alias:
Hpe4
Holoprosencephaly-4
Holoprosencephaly, Type 4
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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
全前脑4,也称为hpe4,与胼胝体脂肪瘤和大脑半球脂肪瘤有关。与全前脑4有关的重要基因是TGIF1(TGFB诱导因子同源盒1),其相关通路/超通路包括TGFβ家族成员信号传导和中胚层承诺通路。附属组织包括大脑,相关表型为上睑下垂和鼻梁下陷。
Related ID:
MALACARDS:HLP029
OMIM:142946
MESH:C564180
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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11
111
16
HLP029
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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