Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_assertion description "[So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_assertion evidence source_evidence_literature NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_assertion SIO_000772 19651702 NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_assertion wasDerivedFrom gad-20130706 NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_assertion wasGeneratedBy ECO_0000203 NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.
- gad-20130706 importedOn "2013-07-06" NP68730.RAE7EW6ibaZo69Y5yQdIxx9XeyEST9QjPwGftzwK2q69A130_provenance.