http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_head http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_provenance http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://identifiers.org/ncbigene/2057 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/C1527405 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/DGNa8c3d8e131bde20dcd050d8733a7bcad http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2057 http://rdf.disgenet.org/resource/gda/DGNa8c3d8e131bde20dcd050d8733a7bcad http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1527405 http://rdf.disgenet.org/resource/gda/DGNa8c3d8e131bde20dcd050d8733a7bcad http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_provenance http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://purl.org/dc/terms/description [Primary erythrocytosis is associated with mutations in the EPOR gene, secondary CE can de due to mutations that stabilize the hemoglobin in the oxygenated form or to mutations in the genes that control the transcriptional activation of the EPO gene - VHL, EGLN1, EPAS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_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/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23859443 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_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/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/dc/terms/created 2015-08-25T14:41:18+02:00 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP378539.RAwQJs22Dg5BGSyLqa9S_tgDidbdRiBy_h4GTe3Ut0PeY 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