Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion description "[Mutations in the ATP-binding cassette transporter 1 (ABCA1) gene have been recently identified as the molecular defect in Tangier disease (TD) and familial high density lipoprotein deficiency (FHA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion evidence source_evidence_curated NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion SIO_000772 11476965 NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion wasDerivedFrom ctd_human-20130708 NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_assertion wasGeneratedBy ECO_0000218 NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP7213.RA5df9gXbuvUun1TJEpmSNne_6WW_PlR3DHb2rPATFG9g130_provenance.