Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion description "[Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion evidence source_evidence_literature NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion SIO_000772 19429912 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion wasDerivedFrom befree-20140225 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_assertion wasGeneratedBy ECO_0000203 NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP300892.RAEd1mlftkbvTqD-DPJgB6u_IWDlV11bz9YPuZxy5cGNc130_provenance.