Disease Causing Mutations Databases
Hello biostar,
Which is you favourite database in the disease causing mutations? My interest is in mutation in coding regions, since I work with post translational modification.
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mithrado •
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Possible duplicate of database for causal genetic variants, Disease associated SNPs
the second link is almost three and a half years old - it is very unlikely that it would be updated with recent information, as for the first link its title does not seem relevant even if its content may be so, again unlikely to be found by search
I use OMIM if you count that in http://www.ncbi.nlm.nih.gov/omim and sometimes, if my variants is known, I might be able to find the disease information in the dbsnp if I am lucky enough http://www.ncbi.nlm.nih.gov/SNP/
In what organism?
I am looking at some specific proteins in human, mice, rat. No organism focus. The truth is I would like to use the Enseble data for variants without the need to translate DNA -> Protein myself.