http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_head http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_assertion http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_provenance http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_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/C0338451 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/DGNf661610895840d24bc114b6a725cb06b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7415 http://rdf.disgenet.org/resource/gda/DGNf661610895840d24bc114b6a725cb06b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0338451 http://rdf.disgenet.org/resource/gda/DGNf661610895840d24bc114b6a725cb06b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_provenance http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_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/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_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/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22579784 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_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/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/dc/terms/created 2016-05-13T12:49:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP981551.RAf_ozK446PMDrl5fmqPvVWdbHupfNVSaZj7Y--1UHpg0 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