@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:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_head { this: np:hasAssertion dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_assertion; np:hasProvenance dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_provenance; np:hasPublicationInfo dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_publicationInfo; a np:Nanopublication . dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_assertion a np:Assertion . dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_provenance a np:Provenance . dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_publicationInfo a np:PublicationInfo . } dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_assertion { miriam-gene:1311 a ncit:C16612 . lld:C0026760 a ncit:C7057 . dgn-gda:DGN3403f7be40a145e4f327da5e95f7caf8 sio:SIO_000628 miriam-gene:1311, lld:C0026760; a sio:SIO_001122 . } dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_provenance { dgn-np:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_assertion dcterms:description "[The results indicate that COMP is the disease susceptibility gene and the c.2152C>T mutation in exon 18 could cause early-onset OA phenotypes in this kindred, which is compatible with a previous report that this mutation also causes a mild form of multiple epiphyseal dysplasia (MED).]. 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:21834907; 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:NP916414.RAbK-KbvZC6f0M41W1-MAqojsf9imUumN6FB9cF5569Ro130_publicationInfo { this: dcterms:created "2016-05-13T12:48:39+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" . }