  Human phenotype-gene relations are fundamental to fully understand the origin
of some phenotypic abnormalities and their associated diseases. Biomedical
literature is the most comprehensive source of these relations, however, we
need Relation Extraction tools to automatically recognize them. Most of these
tools require an annotated corpus and to the best of our knowledge, there is no
corpus available annotated with human phenotype-gene relations. This paper
presents the Phenotype-Gene Relations (PGR) corpus, a silver standard corpus of
human phenotype and gene annotations and their relations. The corpus consists
of 1712 abstracts, 5676 human phenotype annotations, 13835 gene annotations,
and 4283 relations. We generated this corpus using Named-Entity Recognition
tools, whose results were partially evaluated by eight curators, obtaining a
precision of 87.01%. By using the corpus we were able to obtain promising
results with two state-of-the-art deep learning tools, namely 78.05% of
precision. The PGR corpus was made publicly available to the research
community.
