http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_head http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://identifiers.org/ncbigene/224 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/C0020758 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/DGNab956f7320ec3771f6d63e9f80e6582c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/224 http://rdf.disgenet.org/resource/gda/DGNab956f7320ec3771f6d63e9f80e6582c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020758 http://rdf.disgenet.org/resource/gda/DGNab956f7320ec3771f6d63e9f80e6582c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_provenance http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://purl.org/dc/terms/description [Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_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/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23034980 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_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/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/dc/terms/created 2016-05-13T12:49:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1017981.RAvTLVGMriQTKNS1BzQaYQEJUtSkdk-LhJn8VqlBpNWDY 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