Disease Causing Mutations Databases

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10.5 years ago

mithrado ▴ 10

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.

mutation • 2.9k views

ADD COMMENT • link 10.5 years ago by mithrado ▴ 10

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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/

ADD REPLY • link 10.5 years ago by Sam ★ 4.7k

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In what organism?

ADD REPLY • link 10.5 years ago by PoGibas 5.1k

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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.

ADD REPLY • link updated 4.3 years ago by Ram 43k • written 10.0 years ago by mithrado ▴ 10

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Possible duplicate of database for causal genetic variants, Disease associated SNPs

ADD REPLY • link 10.5 years ago by Michael 54k

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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

ADD REPLY • link 10.5 years ago by Istvan Albert 100k

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