寻找遗传与临床信息，这个数据库好用到爆

这个数据库的工作流程
这个数据库的功能

  1. Functional effects of variants, such as stop-gain, splicing, nonsynonymous, and frameshift etc.

  2. Functional consequences (deleterious or tolerant) of variants through 23 in silico predictive algorithms, such as SIFT, Polyphen2, and MutationTaster etc.

  3. Allele frequency in different populations of public databases, such as dbSNP, ExAC, and gnomAD etc.

  4. Disease- and phenotype-related databases for variant- and gene-level implications, such as OMIM, MGI, COSMIC, and ClinVar etc.

  5. General gene-level information, such as protein sequences and interactions, gene functions, pathways, domains, and expression levels, gene-based mutation rates and genic intolerance etc.

  6. Drug–gene interactions and gene druggability for precision medicine.

数据库的使用

1、例如我们要查找一个基因的相关信息，我们直接输入基因名字就可以了，如下图所示：

2、这里可以看到GO Term

3、蛋白互作网络，可以导出excel

4、Pathway

5、表型和疾病

6、下面还有非常多的信息，大家可以自行探讨一下

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