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- source_evidence_literature type ECO_0000212 NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_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." NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_assertion evidence source_evidence_literature NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_assertion SIO_000772 20456451 NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_assertion wasDerivedFrom gad-20150221 NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_assertion wasGeneratedBy ECO_0000203 NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.
- gad-20150221 importedOn "2015-02-21" NP113071.RAinCH9M32fx4iFmBjH_iNXkGB5eq_sXSeYjUhROH2eb8130_provenance.