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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
Precocious Puberty, Central, 1 (CPPB1)
Alias:
Cppb1
Central Precocious Puberty 1
Puberty, Precocious, Central, Type 1
Precocious Puberty, Central 1
Centra Precocious Puberty 1
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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
早熟,中枢,1,也被称为cppb1,与早熟,中枢,2和正常嗅觉先天性性腺功能减退症有关。与早熟,中枢,1有关的重要基因是KISS1R(KISS1受体),其相关通路/超级通路包括信号转导和GPCR下游信号转导。附属组织包括垂体和乳腺,相关表型为脂肪组织。
Related ID:
MALACARDS:PRC047
OMIM:176400
MESH:D011629
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
5
35
15
PRC047
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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