@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:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_head { this: np:hasAssertion dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_assertion; np:hasProvenance dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_provenance; np:hasPublicationInfo dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_publicationInfo; a np:Nanopublication . dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_assertion a np:Assertion . dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_provenance a np:Provenance . dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_publicationInfo a np:PublicationInfo . } dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_assertion { miriam-gene:5554 a ncit:C16612 . lld:C0018802 a ncit:C7057 . dgn-gda:DGNd7e94d70bb5727853fb32709b94ef4a9 sio:SIO_000628 miriam-gene:5554, lld:C0018802; a sio:SIO_001121 . } dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_provenance { dgn-np:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_assertion dcterms:description "[Here, we describe a deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations (initial study OR = 5.3 (95% CI = 2.3-13), P = 2 x 10(-6); replication study OR = 8.59 (3.19-25.05), P = 3 x 10(-8); combined OR = 6.99 (3.68-13.57), P = 4 x 10(-11)) and that disrupts cardiomyocyte structure in vitro.]. 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:19151713; 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:NP640538.RAqT7hIk8I-54fLpv081G4FDKm1HhvOFQWHSmIdNJg3Hw130_publicationInfo { this: dcterms:created "2015-08-25T14:44:04+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" . }