Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion description "[Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian failure in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion evidence source_evidence_literature NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion SIO_000772 16647286 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion wasDerivedFrom befree-2016 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_assertion wasGeneratedBy ECO_0000203 NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.
- befree-2016 importedOn "2016-02-19" NP547417.RAtTtpsxy5oc-rUlFni790Y1rCb1xFT9Sj9pmFd9_KhHU130_provenance.