Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_assertion description "[Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_assertion evidence source_evidence_literature NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_assertion SIO_000772 16470743 NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_assertion wasDerivedFrom befree-20140225 NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_assertion wasGeneratedBy ECO_0000203 NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP630826.RAC_xYFnFyDikFIfB0FuoeRdoUdVhq2Dw48GGkamlPVzE130_provenance.