http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_head http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://identifiers.org/ncbigene/5730 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/C0271829 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/DGN2821cf45b6c052e2fb863b0584b06eb5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5730 http://rdf.disgenet.org/resource/gda/DGN2821cf45b6c052e2fb863b0584b06eb5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271829 http://rdf.disgenet.org/resource/gda/DGN2821cf45b6c052e2fb863b0584b06eb5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_provenance http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://purl.org/dc/terms/description [Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been recorded in patients presenting with deafness and vestibular aqueduct dilatation only, without other features of Pendred syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_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/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10700480 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_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/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/dc/terms/created 2016-05-13T12:43:51+02:00 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP276973.RAVLyH_9Ml7etJ7BugfGavE6SSc_POTDacwmlIXtb3deM 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