@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:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_head { this: np:hasAssertion dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion; np:hasProvenance dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance; np:hasPublicationInfo dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo; a np:Nanopublication . dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion a np:Assertion . dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance a np:Provenance . dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo a np:PublicationInfo . } dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion { miriam-gene:6473 a ncit:C16612 . lld:C0013336 a ncit:C7057 . dgn-gda:DGNd981f6568a2645a8f84af0a5cf779d97 sio:SIO_000628 miriam-gene:6473, lld:C0013336; a sio:SIO_001121 . } dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance { dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion dcterms:description "[However, the only known disease gene within the pseudoautosomal regions is the SHORT STATURE HOMEBOX (SHOX) gene, functional loss of which is causally related to various short stature conditions and disturbed bone 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:16650979; 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:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo { this: dcterms:created "2016-05-13T12:45:53+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" . }