http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_head http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://identifiers.org/ncbigene/79158 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/C0085078 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/DGNf000dfbc0dd294c82c3d137da0ce8f7e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79158 http://rdf.disgenet.org/resource/gda/DGNf000dfbc0dd294c82c3d137da0ce8f7e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085078 http://rdf.disgenet.org/resource/gda/DGNf000dfbc0dd294c82c3d137da0ce8f7e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://purl.org/dc/terms/description [Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22884963 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/dc/terms/created 2015-08-25T14:47:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP942884.RAlPMrGVStrtP9u_HXhyNDJLccSg6IcgNz_eazOOcXq1Y http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0