@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:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_head { this: np:hasAssertion dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_assertion; np:hasProvenance dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_provenance; np:hasPublicationInfo dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_publicationInfo; a np:Nanopublication . dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_assertion a np:Assertion . dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_provenance a np:Provenance . dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_publicationInfo a np:PublicationInfo . } dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_assertion { miriam-gene:5730 a ncit:C16612 . lld:C0271829 a ncit:C7057 . dgn-gda:DGNba7d29da2838b62b46b6b7133f895ef8 sio:SIO_000628 miriam-gene:5730, lld:C0271829; a sio:SIO_001121 . } dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_provenance { dgn-np:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_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-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP655371.RAWu9zaJtNOUZnDdp149b0b_yYGwsQvsXr2eveqMB7AY4130_publicationInfo { this: dcterms:created "2015-08-25T14:44:13+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }