Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion description "[Mutations in the type IV collagen gene, COL4A5, are associated with Alport syndrome, characterized by ultrastructural abnormalities of the glomerular basement membrane (GBM), with or without progressive loss of renal function, characteristic ophthalmic signs and/or high tone sensorineural deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion evidence source_evidence_literature NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion SIO_000772 17277342 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion wasDerivedFrom befree-2016 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_assertion wasGeneratedBy ECO_0000203 NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP592243.RA0U4xdobYK1Q0a-_VmYfcKpz_1scHOct60QjYXCAkSIQ130_provenance.