@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:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_head { this: np:hasAssertion dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_assertion; np:hasProvenance dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_provenance; np:hasPublicationInfo dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_publicationInfo; a np:Nanopublication . dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_assertion a np:Assertion . dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_provenance a np:Provenance . dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_publicationInfo a np:PublicationInfo . } dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_assertion { miriam-gene:3920 a ncit:C16612 . lld:C0878677 a ncit:C7057 . dgn-gda:DGNe961e543742d9ae1c5158a5f7572d969 sio:SIO_000628 miriam-gene:3920, lld:C0878677; a sio:SIO_001121 . } dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_provenance { dgn-np:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_assertion dcterms:description "[Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD).]. 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:23577876; 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:NP531419.RAhUFvQXXqj_iarEqQyGIb6QqqncDtel-IBB65jzfTd-E130_publicationInfo { this: dcterms:created "2015-08-25T14:42:54+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" . }