http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#head http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#assertion http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#provenance http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#assertion http://rdf.disgenet.org/resource/gda/DGNd5f5aa65b7fa70b76fd52700cc0a2ce4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1188 http://rdf.disgenet.org/resource/gda/DGNd5f5aa65b7fa70b76fd52700cc0a2ce4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018784 http://rdf.disgenet.org/resource/gda/DGNd5f5aa65b7fa70b76fd52700cc0a2ce4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#provenance http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#assertion http://purl.org/dc/terms/description [Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#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/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15056980 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#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/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/dc/terms/created 2017-10-17T13:11:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP218544.RAEtjAqjBLxwg3Df0ClFCCFBANhUbT7kJsh06dKvlInGk 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