http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_head
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_provenance
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_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/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/resource/gda/DGN45982ff95d941a53372ed24f91d910a2
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3925
http://rdf.disgenet.org/resource/gda/DGN45982ff95d941a53372ed24f91d910a2
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0151786
http://rdf.disgenet.org/resource/gda/DGN45982ff95d941a53372ed24f91d910a2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_provenance
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_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/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19378506
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/dc/terms/created
2015-08-25T14:42:54+02:00
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP531829.RAdnGHSGn23vBIYWN7XC5oN2UO7uYK6kcSRmGIumx3G14
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0