Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- befree-2016 importedOn "2016-02-19" NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_assertion wasGeneratedBy ECO_0000203 NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_assertion wasDerivedFrom befree-2016 NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_assertion SIO_000772 1635348 NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_assertion evidence source_evidence_literature NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.
- NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_assertion description "[Mutations in the COL4A5 collagen gene have been implicated as the primary defect in Alport syndrome, a heritable disorder characterized by sensorineural deafness and glomerulonephritis that progresses to end-stage renal failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP526830.RAR_Fdn3yQpwnUa9fhTiFV685r-wQUfXWXJyDdYv-44K4130_provenance.