http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_head
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_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/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_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/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_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/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22884963
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_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/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/dc/terms/created
2016-05-13T12:49:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1004480.RAOYwfz5-lIEE5zfQXy8e-WgbFYqOBghL0RwGSxQn2W2I
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