http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_head http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://identifiers.org/ncbigene/5663 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/C0014544 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/DGN7763dd313ec47d1997a009ced4ac9130 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5663 http://rdf.disgenet.org/resource/gda/DGN7763dd313ec47d1997a009ced4ac9130 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014544 http://rdf.disgenet.org/resource/gda/DGN7763dd313ec47d1997a009ced4ac9130 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://purl.org/dc/terms/description [Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_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/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23948899 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_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/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/dc/terms/created 2016-05-13T12:50:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1102737.RA9jUQp1PWVoLGOygQ8QgZfzQOhWv25l3-5XzlHbLo9RQ 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