http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_head http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_assertion http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_assertion http://identifiers.org/ncbigene/1811 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/C0220726 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/DGN1b0e66c3ad76b9b995063aac4f384ed3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1811 http://rdf.disgenet.org/resource/gda/DGN1b0e66c3ad76b9b995063aac4f384ed3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220726 http://rdf.disgenet.org/resource/gda/DGN1b0e66c3ad76b9b995063aac4f384ed3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_provenance http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_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/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_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/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17120758 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_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/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/dc/terms/created 2016-05-13T12:46:08+02:00 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP580522.RAgADufLlDFsejZM6qaX3cLnyM5FB9LXJj4j1tpp2Wi7Y 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