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- source_evidence_literature type ECO_0000212 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion description "[Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion evidence source_evidence_literature NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion SIO_000772 15740668 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion wasDerivedFrom befree-20140225 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion wasGeneratedBy ECO_0000203 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.