@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:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_head { this: np:hasAssertion dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_assertion; np:hasProvenance dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_provenance; np:hasPublicationInfo dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_publicationInfo; a np:Nanopublication . dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_assertion a np:Assertion . dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_provenance a np:Provenance . dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_publicationInfo a np:PublicationInfo . } dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_assertion { miriam-gene:860 a ncit:C16612 . lld:C0008928 a ncit:C7057 . dgn-gda:DGNa4604b0913a8a5b58bb5a72c20af7d81 sio:SIO_000628 miriam-gene:860, lld:C0008928; a sio:SIO_001121 . } dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_provenance { dgn-np:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_assertion dcterms:description "[The clinical appearance of patients with cleidocranial dysplasia (CCD), which is caused by mutations in the RUNX2 gene, is characterized by anomalies of the clavicles, thorax, spine, pelvis and extremities and by disturbances of the skull and tooth development.]. 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:19960292; 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:NP779421.RAhN7rLILuOxxxdepkxJ-xbnYuxCqA03doyWHfN_0mjls130_publicationInfo { this: dcterms:created "2016-05-13T12:47:38+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" . }