http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#head http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#assertion http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#provenance http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#assertion http://rdf.disgenet.org/resource/gda/DGN18e6b1143bb59c854b1032330bb28a04 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1836 http://rdf.disgenet.org/resource/gda/DGN18e6b1143bb59c854b1032330bb28a04 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220726 http://rdf.disgenet.org/resource/gda/DGN18e6b1143bb59c854b1032330bb28a04 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#provenance http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#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/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#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/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17120758 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#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/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/dc/terms/created 2017-10-17T13:12:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP304103.RAv_eFt_gUCCsJ2a7Ig_6W4YGwQOXtS_Abk-Jtso05_pk 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