Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_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." NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_assertion evidence source_evidence_literature NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_assertion SIO_000772 22703880 NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_assertion wasDerivedFrom befree-20150227 NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_assertion wasGeneratedBy ECO_0000203 NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP253590.RAl3uNEaP4eGak5DmKTakcDh-sA0XRAsPZ3eaSTmxIYkU130_provenance.