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- source_evidence_literature type ECO_0000212 NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_assertion description "[DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_assertion evidence source_evidence_literature NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_assertion SIO_000772 23261301 NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_assertion wasDerivedFrom befree-2016 NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_assertion wasGeneratedBy ECO_0000203 NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1038005.RAcBGkmMMfIuJsjbNC40KziFuUXEqeSPdQrjd7-qsWTGk130_provenance.