http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_head http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_assertion http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_provenance http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_assertion http://identifiers.org/ncbigene/5730 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/C0040128 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/DGN5a00c0e29ec810c77d22a2a6f4f58be5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5730 http://rdf.disgenet.org/resource/gda/DGN5a00c0e29ec810c77d22a2a6f4f58be5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0040128 http://rdf.disgenet.org/resource/gda/DGN5a00c0e29ec810c77d22a2a6f4f58be5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_provenance http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_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/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_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/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17120758 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_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/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/dc/terms/created 2016-05-13T12:46:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580525.RAvhcYF680s-FtvJxofOko7Dp4Lh__aJmCF7aIKocQbsk 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