@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:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_head { this: np:hasAssertion dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_assertion; np:hasProvenance dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_provenance; np:hasPublicationInfo dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_publicationInfo; a np:Nanopublication . dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_assertion a np:Assertion . dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_provenance a np:Provenance . dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_publicationInfo a np:PublicationInfo . } dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_assertion { miriam-gene:2138 a ncit:C16612 . lld:C0000768 a ncit:C7057 . dgn-gda:DGN4b9e3769437fd2a2ea4d294ac8b8838d sio:SIO_000628 miriam-gene:2138, lld:C0000768; a sio:SIO_001121 . } dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_provenance { dgn-np:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_assertion dcterms:description "[Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity.]. 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:18763178; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP265444.RAgF9zQgjIdGQttbLCkiBH1VY3w2CexLCtZStPOw-ZUvI130_publicationInfo { this: dcterms:created "2014-10-02T12:34:28+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }