The Disease Ontology1 contains data associating genes with human diseases, using established disease codes and terminologies.
The human hg19 ontology contains 1,810 phenotypes, 4,358 genes, and 122,192 total term <--> gene associations.
The human hg18 ontology contains 1,810 phenotypes, 4,365 genes, and 122,156 total term <--> gene associations.
The mouse mm9 ontology contains 1,791 phenotypes, 4,079 genes, and 116,587 total term <--> gene associations.
All data for this ontology was downloaded on January 28, 2011.
|1||Osborne, J.D. et al. Annotating the human genome with Disease Ontology, BMC Genomics 2009 10:S1-S6|