SynaptopathyDB integrates synaptic proteomes, genetic and phenotypic data to advance research on nervous system disorders
8.5
来源：
Nature
关键字：
neural coding
发布时间：
2025-12-02 19:40
摘要：
SynaptopathyDB is a comprehensive online resource that integrates synaptic proteomes, genetic, and phenotypic data to advance research on nervous system disorders. It identifies a consensus set of 3,437 synaptic proteins and links mutations in 954 genes to 1,266 diseases, underscoring the significant role of synaptic gene variants in neurological and psychiatric disorders. This platform facilitates exploration of the genetic basis of synaptopathies, providing tools for researchers to connect synaptic proteins with disease phenotypes.
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关键证据
SynaptopathyDB integrates data from 64 mammalian synapse proteomic studies.
Identified a consensus set of 3,437 mammalian synapse proteins.
Mutations in 954 genes associated with 1,266 OMIM diseases.
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AI评分总结
SynaptopathyDB is a comprehensive online resource that integrates synaptic proteomes, genetic, and phenotypic data to advance research on nervous system disorders. It identifies a consensus set of 3,437 synaptic proteins and links mutations in 954 genes to 1,266 diseases, underscoring the significant role of synaptic gene variants in neurological and psychiatric disorders. This platform facilitates exploration of the genetic basis of synaptopathies, providing tools for researchers to connect synaptic proteins with disease phenotypes.