@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:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_head { this: np:hasAssertion dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_assertion; np:hasProvenance dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_provenance; np:hasPublicationInfo dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_publicationInfo; a np:Nanopublication . dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_assertion a np:Assertion . dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_provenance a np:Provenance . dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_assertion { miriam-gene:4540 a ncit:C16612 . lld:C0917796 a ncit:C7057 . dgn-gda:DGN6a02a1748a7a7805d4ab9bd26a539e27 sio:SIO_000628 miriam-gene:4540, lld:C0917796; a sio:SIO_001122 . } dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_provenance { dgn-np:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_assertion dcterms:description "[Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a.]. 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:19026397; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP70888.RAyHsEbI1y7LZp9CJ8cJVB0zgUrZln9h-9ooVMs6LWT_Q130_publicationInfo { this: dcterms:created "2014-10-02T12:32:34+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" . }