http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_head http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_assertion http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_provenance http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_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/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_provenance http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_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/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_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/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15709978 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_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/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/dc/terms/created 2015-08-25T14:40:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP315152.RAOYITlcbTT0NZ2vWYETj5QwasSCHKMdn8L5bFSTT_GnA 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