http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_head http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://identifiers.org/ncbigene/3925 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0027868 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN8f86044a3c9ee96b42d3eba20291ccd8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3925 http://rdf.disgenet.org/resource/gda/DGN8f86044a3c9ee96b42d3eba20291ccd8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027868 http://rdf.disgenet.org/resource/gda/DGN8f86044a3c9ee96b42d3eba20291ccd8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://purl.org/dc/terms/description [Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19378506 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/dc/terms/created 2016-05-13T12:47:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0