http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_head http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://identifiers.org/ncbigene/5172 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/C0271829 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/DGNedb62329d5a8e5c214c55af3dad6c8e7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5172 http://rdf.disgenet.org/resource/gda/DGNedb62329d5a8e5c214c55af3dad6c8e7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271829 http://rdf.disgenet.org/resource/gda/DGNedb62329d5a8e5c214c55af3dad6c8e7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://purl.org/dc/terms/description [Three rare recessive diseases in humans, namely diastrophic dysplasia (cartilage disorder resulting in growth retardation), congenital chloride diarrhoea (anion exchange disorder of the intestine) and Pendred syndrome (deafness with thyroid disorder) turned out to be caused by the highly related genes SLC26A2 (first called DTDST), SLC26A3 (first called CLD or DRA) and SLC26A4 (first called PDS), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_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/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17120758 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_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/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/dc/terms/created 2016-05-13T12:46:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs 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