OMIM

Hi,
  Using the OMIM API [1], I produced an RDF version of OMIM (github code
[2]) which I've subsequently loaded into a (temporary) virtuoso endpoint
[3].  The easiest way to get into the system is through a faceted search
[4], or from the list of types [5], or you can try looking at a VKORC1
associated variation as an entry point [6].

comments and suggestions welcome.

[1]  http://www.omim.org/help/api
[2]  https://github.com/bio2rdf/bio2rdf-scripts/blob/master/omim/omim.php
[3]  http://bio2rdf.semanticscience.org:8009/sparql
[4]  http://bio2rdf.semanticscience.org:8009/fct
[5]  http://goo.gl/HQ8rO
[6]
http://bio2rdf.semanticscience.org:8009/describe/?url=http%3A%2F%2Fbio2rdf.org%2Fomim_resource%3A608547_allele_1


-- 
Michel Dumontier
Associate Professor of Bioinformatics, Carleton University
Chair, W3C Semantic Web for Health Care and the Life Sciences Interest Group
http://dumontierlab.com