@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_head { this: np:hasAssertion dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion; np:hasProvenance dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance; np:hasPublicationInfo dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo; a np:Nanopublication . dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion a np:Assertion . dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance a np:Provenance . dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo a np:PublicationInfo . } dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion { miriam-gene:5172 a ncit:C16612 . lld:C0271829 a ncit:C7057 . dgn-gda:DGNedb62329d5a8e5c214c55af3dad6c8e7 sio:SIO_000628 miriam-gene:5172, lld:C0271829; a sio:SIO_001121 . } dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_provenance { dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:17120758; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP580527.RAJU7B0pEdd4x_CFeC5LukSfZak_91615ThkmcNhKtnTs130_publicationInfo { this: dcterms:created "2016-05-13T12:46:08+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }