Cowden Syndrome 6 (CWS6)

Alias:
Cws6
Cowden Syndrome, Type 6
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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
Cowden Syndrome 6,也被称为cws6,与noonan syndrome 4和keratosis pilaris atrophicans faciei有关。与Cowden Syndrome 6相关的基因是AKT1(AKT丝氨酸/苏氨酸激酶1),其相关通路/超级通路包括先天免疫系统和信号转导。附属组织包括甲状腺和乳腺,相关表型包括智力障碍和轻度智力障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
150
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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