http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_head http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_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/C0027066 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/DGNa83b7161ef5bf1e1e4942f4c716a82b3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5663 http://rdf.disgenet.org/resource/gda/DGNa83b7161ef5bf1e1e4942f4c716a82b3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027066 http://rdf.disgenet.org/resource/gda/DGNa83b7161ef5bf1e1e4942f4c716a82b3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_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/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_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/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23948899 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_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/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/dc/terms/created 2016-05-13T12:50:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1102735.RAEO8dfYOsa9lSS3SzR7q2wPUQa4RYNwRioO-Fc2JmQbQ 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