OMIM Disease Annotation Pipeline

Authors: RGD automated, PIPELINES 
Citation: OMIM Disease Annotation Pipeline

Gene-disease annotation created via RGD's "OMIM Annotation Pipeline". Prior to February 2013, associations between Online Mendelian Inheritance in Man (OMIM) disease terms and human genes were stored as ontology synonyms of the type "omim_gene_assoc" for the applicable RGD Disease Ontology (RDO) terms. The existing OMIM pipeline associates OMIM IDs with RGD genes via the NCBI Gene ID. This pipeline uses data imported from the Comparative Toxicogenomics Database (CTD; http://ctdbase.org/) and the existing OMIM-ID-to-RGD-gene associations to make RGD Disease Ontology (RDO) annotations. Since data in OMIM is for the most part human data, and since this data was not reviewed by RGD curators before making assignments, the evidence code assigned to human gene-disease annotations is "IEA", that is, "inferred by electronic annotation". Annotations are also propagated to the orthologous rat and mouse genes based on the similarity of the respective sequences. To reflect this, the evidence code for the mouse and rat annotations is "ISS" or "inferred from sequence similarity". The pipeline is run and annotations updated on a weekly basis.
 
CRRD Object Information
CRRD ID: 7240710
Created: 2013-02-19
Species: All species
Last Modified: 2013-02-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.