Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_assertion description "[Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes, and face.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_assertion evidence source_evidence_literature NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_assertion SIO_000772 10220506 NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_assertion wasDerivedFrom befree-20140225 NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_assertion wasGeneratedBy ECO_0000203 NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP633821.RAk-axfr3WcS_xB9YhVumfwtdr5ibC4dBat-5p7-qjW1I130_provenance.