@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:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_head { this: np:hasAssertion dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_assertion; np:hasProvenance dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_provenance; np:hasPublicationInfo dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_publicationInfo; a np:Nanopublication . dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_assertion a np:Assertion . dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_provenance a np:Provenance . dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_publicationInfo a np:PublicationInfo . } dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_assertion { miriam-gene:10555 a ncit:C16612 . lld:C0007194 a ncit:C7057 . dgn-gda:DGN15485e58c9756a74c68d1101ea5ac567 sio:SIO_000628 miriam-gene:10555, lld:C0007194; a sio:SIO_001121 . } dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_provenance { dgn-np:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_assertion dcterms:description "[In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX).]. 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:12362029; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP857027.RAXFcbbjRLCvDtYvf9oBLFiEe5VN2e8Q0bcP0mHjq_NFE130_publicationInfo { this: dcterms:created "2014-10-02T12:40:44+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" . }