http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_head http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://identifiers.org/ncbigene/26503 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/C1096902 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/DGN6787c48892ddd62173b8d62b107e14c4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26503 http://rdf.disgenet.org/resource/gda/DGN6787c48892ddd62173b8d62b107e14c4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1096902 http://rdf.disgenet.org/resource/gda/DGN6787c48892ddd62173b8d62b107e14c4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_provenance http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://purl.org/dc/terms/description [Lysosomal free sialic acid storage diseases are recessively inherited allelic neurodegenerative disorders that include Salla disease (SD) and infantile sialic acid storage disease (ISSD) caused by mutations in the SLC17A5 gene encoding for a lysosomal membrane protein, sialin, transporting sialic acid from lysosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_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/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16170568 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_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/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/dc/terms/created 2016-05-13T12:45:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP514125.RAGZUUk0rmILHgfjiy5BPBYocjpezJyF9RDiqHED_h9zM 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