Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_assertion description "[Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_assertion evidence source_evidence_curated NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_assertion SIO_000772 12111381 NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_assertion wasDerivedFrom uniprot-2016 NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_assertion wasGeneratedBy ECO_0000218 NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2133.RARURMCE8Dy6CMPz8VjUpcg3FJyx-c5dl0ueE_eHcFdGI130_provenance.