Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_assertion description "[Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect-II (ASD-II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_assertion evidence source_evidence_literature NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_assertion SIO_000772 20456451 NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_assertion wasDerivedFrom befree-2016 NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_assertion wasGeneratedBy ECO_0000203 NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.
- befree-2016 importedOn "2016-02-19" NP811124.RAa5etazWzkjqvJD0GP-FQhNjKJLhnHKzx0sgoikMUEFI130_provenance.