http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_head http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_provenance http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://identifiers.org/ncbigene/2253 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/C0344232 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/DGN1208f458eaca2f54d33be19fec03237c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2253 http://rdf.disgenet.org/resource/gda/DGN1208f458eaca2f54d33be19fec03237c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0344232 http://rdf.disgenet.org/resource/gda/DGN1208f458eaca2f54d33be19fec03237c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_provenance http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://purl.org/dc/terms/description [Several themes have emerged as the genetic basis of HH has gradually been uncovered, including the association of some genes such as FGFR1, FGF8, PROK2 and PROKR2, both with HH in association with hyposmia/anosmia (Kallmann syndrome) and with normosmic HH, thus blurring the clinical distinction between ontogenic and purely functional defects in the axis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_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/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19719764 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_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/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/dc/terms/created 2016-05-13T12:47:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI 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