Question: Database of Mutations and the associated drugs
gravatar for Ron
20 months ago by
United States
Ron990 wrote:

Hi all,

I am looking for a database of the clinically relevant mutations that are targetable.(based on mutation level and not gene level) Something similar to what Oncokb has but not sure if its comprehensive? Are there any such databases ?Any suggestions would be helpful.



wes ngs • 656 views
ADD COMMENTlink modified 20 months ago by Kevin Blighe56k • written 20 months ago by Ron990
gravatar for Kevin Blighe
20 months ago by
Kevin Blighe56k
Kevin Blighe56k wrote:


One that I find really intriguing (and wish that I had more time to data mine) is PharmGKB. This contains data on individual variants' relationships to things like metabolite metabolism, drug actionability, et cetera.

An example:

Annotation of rs3808607

Genotype GG is associated with decreased response to atorvastatin in people with Hypercholesterolemia as compared to genotype TT. Please note; this variant was described as CYP7A1 A-204C (alleles here are complemented for the plus chromosomal strand). The effect of the rs11887534 C allele was greater in patients with the rs3808607 TT genotype and became smaller with increased number of rs3808607 G alleles.


The data can be downloaded as tables.


Open Targets

You may also want to check out Open Targets, from Denise at EBI in Hinxton (Cambridge), UK. Also here: Open Targets and programmatic access


ADD COMMENTlink written 20 months ago by Kevin Blighe56k
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