http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_head http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://identifiers.org/ncbigene/6638 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/C0151786 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/gene-disease-association.ttl#DGNaf33b5dcaf58d8bdbf36864d4c04f3da http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6638 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaf33b5dcaf58d8bdbf36864d4c04f3da http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0151786 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaf33b5dcaf58d8bdbf36864d4c04f3da http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_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/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19378506 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/dc/terms/created 2014-10-02T12:34:03+02:00 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP222055.RASDmjWAKV3nzDySGhysxJ_b_l3e3hKhGlUdIlVRtPQJg http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0