http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_head http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_provenance http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://identifiers.org/ncbigene/6390 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/C0030421 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/DGN53ce1b3ea6a224af95c54600d6a65f4e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6390 http://rdf.disgenet.org/resource/gda/DGN53ce1b3ea6a224af95c54600d6a65f4e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0030421 http://rdf.disgenet.org/resource/gda/DGN53ce1b3ea6a224af95c54600d6a65f4e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_provenance http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://purl.org/dc/terms/description [Heterozygous germline mutations in SDHA, SDHB, SDHC, SDHD and in the assembly factor encoding gene SDHAF2 have all been shown to predispose to heritable endocrine neoplasias such as pheochromocytomas (PHEO) and paragangliomas (PGLs) called 'PHEO-PGL syndrome'.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_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/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23175444 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_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/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/dc/terms/created 2015-08-25T14:44:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688804.RAa3zkHOlzBlG8br76MeyTfXniuFCqFItfNPsxKeYB8Vk 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