http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_head http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_provenance http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://identifiers.org/ncbigene/2271 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/C0027651 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/DGN7bac202150e8f1e4b9be009679e62382 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2271 http://rdf.disgenet.org/resource/gda/DGN7bac202150e8f1e4b9be009679e62382 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027651 http://rdf.disgenet.org/resource/gda/DGN7bac202150e8f1e4b9be009679e62382 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_provenance http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://purl.org/dc/terms/description [Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyomatosis and renal cell cancer; yet the connection between disruption of mitochondrial metabolic pathways and neoplasia remains to be discovered.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_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/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16319128 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_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/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/dc/terms/created 2015-08-25T14:41:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP402490.RAW8evcKReyuAhOHEZJbP2C5P34U3c5gY7Rt5fAN41wvk 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