http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#head http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#provenance http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://rdf.disgenet.org/resource/gda/DGN4c7811c9506280ec1e9627e498bd2b2d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5663 http://rdf.disgenet.org/resource/gda/DGN4c7811c9506280ec1e9627e498bd2b2d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0236642 http://rdf.disgenet.org/resource/gda/DGN4c7811c9506280ec1e9627e498bd2b2d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#provenance http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#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/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23948899 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/dc/terms/created 2017-10-17T13:15:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP866761.RA4cvuMPyMEsRKRQTmdE-CuaXrA7nrj6_ZQMzwxPA-_iw http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0