@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:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_head { this: np:hasAssertion dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_assertion; np:hasProvenance dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_provenance; np:hasPublicationInfo dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_publicationInfo; a np:Nanopublication . dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_assertion a np:Assertion . dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_provenance a np:Provenance . dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_publicationInfo a np:PublicationInfo . } dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_assertion { miriam-gene:4541 a ncit:C16612 . lld:C0917796 a ncit:C7057 . dgn-gda:DGN8e5771a19a421bdba7043bf105e5a54f sio:SIO_000628 miriam-gene:4541, lld:C0917796; a sio:SIO_001121 . } dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_provenance { dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_assertion dcterms:description "[Three pathogenic mutations (positions 11778/ND4, 3460/ND1 and 14484/ND6) account for the majority of LHON cases and they affect genes that encode for different subunits of mitochondrial complex I. Excitotoxic injury to retinal ganglion cells and the optic nerve has been previously hypothesized, especially given the high susceptibility of this neural cell type to glutamate toxicity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:15342361; prov:wasDerivedFrom dgn-void:ctd_human-20130708; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20130708 pav:importedOn "2013-07-24"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP23874.RAp6EhnLNcro5MIJ7jwUaJY3eiBkaC66VilvrfY8Rkkf8130_publicationInfo { this: dcterms:created "2014-10-02T12:32:09+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" . }