@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:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_head { this: np:hasAssertion dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_assertion; np:hasProvenance dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_provenance; np:hasPublicationInfo dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_publicationInfo; a np:Nanopublication . dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_assertion a np:Assertion . dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_provenance a np:Provenance . dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_publicationInfo a np:PublicationInfo . } dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_assertion { miriam-gene:6261 a ncit:C16612 . lld:C0024591 a ncit:C7057 . dgn-gda:DGN979655d09e6b27d1b1f6d8cef9931271 sio:SIO_000628 miriam-gene:6261, lld:C0024591; a sio:SIO_001121 . } dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_provenance { dgn-np:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_assertion dcterms:description "[Several mutations in the genes encoding RyR1 and RyR2 have been identified in autosomal dominant diseases of skeletal and cardiac muscle, such as malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia type 2 (ARVD2).]. 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:15336972; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP457891.RA6EL2trnQXphHfy_C6KHQX-494DySQfSJKn4Nd6UN9gY130_publicationInfo { this: dcterms:created "2016-05-13T12:45:12+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }