http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_head http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_provenance http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://identifiers.org/ncbigene/7415 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/C0026848 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/DGNa2eec7d9ccbaff7d99a1368e2cdcd823 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7415 http://rdf.disgenet.org/resource/gda/DGNa2eec7d9ccbaff7d99a1368e2cdcd823 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGNa2eec7d9ccbaff7d99a1368e2cdcd823 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_provenance http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://purl.org/dc/terms/description [Missense mutations that occur at the interface between two functional domains in the AAA protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia (IBMPFD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_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/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22579784 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_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/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/dc/terms/created 2016-05-13T12:49:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP981554.RAbW2Ij3z1AuOt8dSx1MzousuJCidAfRNI1vY3iU6Y0iY 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