Disease specific mutation database (non cancer)
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5.7 years ago
kanwarjag ★ 1.2k

Is there any database that may allow to quay one or two particular genes and provide information about the association of mutations of that gene with disease progression/ survival ? There are few web databases to quay TCGA/ cancer data but I could not find the one related to IBD or Crohn's or related disease

next-gen • 1.0k views
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https://www.targetvalidation.org/ might be a good starting point.

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Human Gene Mutation Database is good for this purpose.

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Beyond the database (if you find a suitable one), I would always go back to the publication that this mutation-disease link is based on and see if this is really based on experimental verification with adequate statistics and/or animal or cell culture models.

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