@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:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_head { this: np:hasAssertion dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_assertion; np:hasProvenance dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_provenance; np:hasPublicationInfo dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_publicationInfo; a np:Nanopublication . dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_assertion a np:Assertion . dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_provenance a np:Provenance . dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_assertion { miriam-gene:554175 a ncit:C16612 . lld:C0338508 a ncit:C7057 . dgn-gda:DGN570e9a324d56b37140081ce338d68abb sio:SIO_000628 miriam-gene:554175, lld:C0338508; a sio:SIO_001122 . } dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_provenance { dgn-np:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_assertion dcterms:description "[The gene OPA1, encoding a dynamin-related GTPase, has recently been identified within the genetic linkage interval for the major locus for DOA on chromosome 3q28 and shown to harbour genetic aberrations segregating with disease in DOA families.]. 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:11735024; 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:NP1003441.RAmD7yXcq_8ebJT6ShEpi_Tl7oDMEzUDtIYe98F1FxZAs130_publicationInfo { this: dcterms:created "2015-08-25T14:48:02+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" . }