http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_head http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://identifiers.org/ncbigene/1178 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/C1833683 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/DGNd500f731ea0feac9958e4200151f5830 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1178 http://rdf.disgenet.org/resource/gda/DGNd500f731ea0feac9958e4200151f5830 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1833683 http://rdf.disgenet.org/resource/gda/DGNd500f731ea0feac9958e4200151f5830 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_provenance http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://purl.org/dc/terms/description [Human mutations in CLC channels are known to cause diseases as diverse as myotonia (muscle stiffness), Bartter syndrome (renal salt loss) with or without deafness, Dent's disease (proteinuria and kidney stones), osteopetrosis and neurodegeneration, and possibly epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15709978 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/dc/terms/created 2015-08-25T14:40:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315158.RA6LZaFUBezFh7psx1MUIGxjiCDQst2LNA5v2KKHB6Egs http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0