DOSE: an R/Bioconductor package for disease ontology semantic and enrichment analysis

The disease and gene annotations (DGA): an annotation resource for human disease

(2012) Kai Peng et al.   NUCLEIC ACIDS RESEARCH

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

DOSim: An R package for similarity between diseases based on Disease Ontology

(2011) Jiang Li et al.   BMC BIOINFORMATICS

Disease Ontology: a backbone for disease semantic integration

(2011) L. M. Schriml et al.   NUCLEIC ACIDS RESEARCH

GOSemSim: an R package for measuring semantic similarity among GO terms and gene products

(2010) G. Yu et al.   BIOINFORMATICS

Annotating the human genome with Disease Ontology

(2009) John D Osborne et al.   BMC GENOMICS