http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_head http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_assertion http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_provenance http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_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/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_provenance http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_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/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_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/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23859443 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_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/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/dc/terms/created 2016-05-13T12:50:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1094248.RALJ7fN-dn1Wa2zmHJTLkREqad6uLNe2Ntybl9zkkF-6A 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