Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_assertion wasGeneratedBy ECO_0000203 NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_assertion wasDerivedFrom befree-20150227 NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_assertion SIO_000772 1635348 NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_assertion evidence source_evidence_literature NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.
- NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_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." NP320075.RA-F4jSrDNO3jR56yYoZEll04yU8R-v74gHSDFT96BiEQ130_provenance.