http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#head http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#assertion http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#provenance http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#assertion http://rdf.disgenet.org/resource/gda/DGNd267fe1a58380a061257f03c8b239576 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3077 http://rdf.disgenet.org/resource/gda/DGNd267fe1a58380a061257f03c8b239576 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0392514 http://rdf.disgenet.org/resource/gda/DGNd267fe1a58380a061257f03c8b239576 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#provenance http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#assertion http://purl.org/dc/terms/description [The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#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/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12952143 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#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/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/dc/terms/created 2017-10-17T13:13:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP485909.RAe8iS6Hhe72374v37UUvgM3aVOo38o0GL1aykALCoEXw 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