Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_assertion description "[An acid-ceramidase activity below 10% results in Farber disease, an early-onset disease starting with subcutaneous lipogranulomata, joint pain, and hoarseness of the voice, whereas a higher residual activity might be responsible for SMA-PME, a later-onset phenotype restricted to the CNS and starting with lower-motor-neuron disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_assertion evidence source_evidence_literature NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_assertion SIO_000772 22703880 NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_assertion wasDerivedFrom befree-20140225 NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_assertion wasGeneratedBy ECO_0000203 NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.
- befree-20140225 importedOn "2014-02-25" NP617414.RAUyeccqx8kC5nC01b78FozDflx2VKeoN3bYm6-t6Y5gQ130_provenance.