http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#head http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#assertion http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#provenance http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#assertion http://rdf.disgenet.org/resource/gda/DGN8c627d6d4bb4318ba7bf3ae123b49a8c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/958 http://rdf.disgenet.org/resource/gda/DGN8c627d6d4bb4318ba7bf3ae123b49a8c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019045 http://rdf.disgenet.org/resource/gda/DGN8c627d6d4bb4318ba7bf3ae123b49a8c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#provenance http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#assertion http://purl.org/dc/terms/description [Conversely, the patient with life-long erythrocytosis is more likely to suffer from congenital polycythemia and should therefore be evaluated for germline mutations that result in enhanced Epo effect (for example, Epo receptor mutations), altered intracellular oxygen sensing (for example, mutations involving the von Hippel-Lindau tumor suppressor gene) or decreased P50 (for example, high-oxygen-affinity hemoglobinopathy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#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/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19295544 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#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/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/dc/terms/created 2017-10-17T13:11:20+02:00 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP180435.RA5fvUgK_ib326KVv9i1BlInePmkgbxgWVd326Jw8op5A 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