http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_head http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion http://identifiers.org/ncbigene/6606 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/C0030552 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/DGNe696838ef74496a0297377794fe19db5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6606 http://rdf.disgenet.org/resource/gda/DGNe696838ef74496a0297377794fe19db5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030552 http://rdf.disgenet.org/resource/gda/DGNe696838ef74496a0297377794fe19db5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_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/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_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/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19378506 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_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/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/dc/terms/created 2016-05-13T12:47:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk 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