http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#head http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#provenance http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2706 http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018784 http://rdf.disgenet.org/resource/gda/DGNe9f855ee3428cae4c7581a374bb3c64e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#provenance http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion http://purl.org/dc/terms/description [It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#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/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19283857 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#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/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/dc/terms/created 2017-10-17T13:13:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP442455.RAWncnpV94StDJXATZAF_mj1NR-kZWBUWIYzRgp4Uw018 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