http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#head http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://rdf.disgenet.org/resource/gda/DGNe8088f6be75083bff3fc209bc737f9c1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8972 http://rdf.disgenet.org/resource/gda/DGNe8088f6be75083bff3fc209bc737f9c1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007194 http://rdf.disgenet.org/resource/gda/DGNe8088f6be75083bff3fc209bc737f9c1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://purl.org/dc/terms/description [Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severely affected patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18782850 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/dc/terms/created 2017-10-17T13:17:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1169101.RAQlSXGZ4muJV6nEWBgbumVoJKOHIuGtjVLGZ4WPzEHdQ http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0