@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:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_head { this: np:hasAssertion dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_assertion; np:hasProvenance dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_provenance; np:hasPublicationInfo dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_publicationInfo; a np:Nanopublication . dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_assertion a np:Assertion . dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_provenance a np:Provenance . dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_publicationInfo a np:PublicationInfo . } dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_assertion { miriam-gene:8600 a ncit:C16612 . lld:C0268414 a ncit:C7057 . dgn-gda:DGN71f67bdd725d27f5134abc8c67d4e8ee sio:SIO_000628 miriam-gene:8600, lld:C0268414; a sio:SIO_001121 . } dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_provenance { dgn-np:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_assertion dcterms:description "[Our findings: i) reveal that JPD can be associated with an activating mutation within TNFRSF11A, ii) expand the range and overlap of phenotypes among the Mendelian disorders of RANK activation, and iii) call for mutation analysis to improve diagnosis, prognostication, recurrence risk assessment, and perhaps treatment selection among the monogenic disorders of RANKL/OPG/RANK activation.]. 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:25063546; 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:NP1205106.RAO6y3SVYCtMiYwoUWkDHTTTC4nRS0bmYWJ7uM6l1HYe8130_publicationInfo { this: dcterms:created "2016-05-13T12:50:52+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" . }