http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#head http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#assertion http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#provenance http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#assertion http://rdf.disgenet.org/resource/gda/DGN02901afe9af613e4a29adb22a80db224 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5172 http://rdf.disgenet.org/resource/gda/DGN02901afe9af613e4a29adb22a80db224 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271829 http://rdf.disgenet.org/resource/gda/DGN02901afe9af613e4a29adb22a80db224 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#provenance http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#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/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#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/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17120758 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#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/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/dc/terms/created 2017-10-17T13:15:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP797756.RAtcv0RXI_ooT2OADoUmT8jf6lYEWjDxOFl1yXXuj51sM 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