Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_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." NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion evidence source_evidence_literature NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion SIO_000772 17277342 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion wasDerivedFrom befree-20140225 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_assertion wasGeneratedBy ECO_0000203 NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP235989.RAYdnHIkwVfxYMVUV4BvFxGnOGdPxxVCwTw5nJ4VWw6Xc130_provenance.