http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#head http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#assertion http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#provenance http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#assertion http://rdf.disgenet.org/resource/gda/DGN2807175fed0f77de7db4c4f220356feb http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3988 http://rdf.disgenet.org/resource/gda/DGN2807175fed0f77de7db4c4f220356feb http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008384 http://rdf.disgenet.org/resource/gda/DGN2807175fed0f77de7db4c4f220356feb http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#provenance http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#assertion http://purl.org/dc/terms/description [Mutations in the LAL gene (LIPA) result in accumulation of triglycerides and cholesterol esters in various tissues of the body, leading to pathological conditions such as Wolman's disease (WD) and cholesteryl ester storage disease (CESD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#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/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25620107 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#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/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/dc/terms/created 2017-10-17T13:14:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP647160.RApo4VvmrlN83k94-mRVSCcwYKzDFnU2b15l8vqOqQgyM 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