http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_head
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://identifiers.org/ncbigene/10648
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/C0008384
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/DGNe9819a6d1dfee9764442b9ded5719e46
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10648
http://rdf.disgenet.org/resource/gda/DGNe9819a6d1dfee9764442b9ded5719e46
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0008384
http://rdf.disgenet.org/resource/gda/DGNe9819a6d1dfee9764442b9ded5719e46
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://purl.org/dc/terms/description
[The molecular defects in the LIPA gene encoding the lysosomal acid lipase (LAL) were investigated in two unrelated patients affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL-deficient activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_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/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9367797
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_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/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/dc/terms/created
2016-05-13T12:52:13+02:00
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1383922.RACXHYOs46r0n9AdSKcSIG2vedXuofhX1G0jBrivy66oI
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