http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#head
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#assertion
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#provenance
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#assertion
http://rdf.disgenet.org/resource/gda/DGN3467dfe50d0800b680a801397edf07df
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/351
http://rdf.disgenet.org/resource/gda/DGN3467dfe50d0800b680a801397edf07df
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0276496
http://rdf.disgenet.org/resource/gda/DGN3467dfe50d0800b680a801397edf07df
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#provenance
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#assertion
http://purl.org/dc/terms/description
[Thus missense, splice site or duplication mutants in the presenilin 1 (PS1), presenilin 2 (PS2) or the amyloid precursor protein (APP) genes, which alter the levels or shift the balance of A? produced, are associated with rare, highly penetrant autosomal dominant forms of Familial Alzheimer's Disease (FAD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#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/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25748120
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#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/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/dc/terms/created
2017-10-17T13:10:38+02:00
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP70114.RATk1KWA3ThSHNbqx_75GRar5mZ35YRPPJ52AbiYGEAGA
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