http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_head http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_assertion http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_provenance http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_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/C0221170 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/DGN1d26aef4992c68e639c29cb9b9f27b71 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1178 http://rdf.disgenet.org/resource/gda/DGN1d26aef4992c68e639c29cb9b9f27b71 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221170 http://rdf.disgenet.org/resource/gda/DGN1d26aef4992c68e639c29cb9b9f27b71 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_provenance http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_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/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_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/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15709978 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_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/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/dc/terms/created 2016-05-13T12:45:22+02:00 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP480812.RAndz6vNeakzulS1A-zfNd41blFGi7glGKwryU3ynEjRc 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