@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:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_head { this: np:hasAssertion dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_assertion; np:hasProvenance dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_provenance; np:hasPublicationInfo dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_publicationInfo; a np:Nanopublication . dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_assertion a np:Assertion . dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_provenance a np:Provenance . dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_assertion { miriam-gene:8106 a ncit:C16612 . lld:C0743319 a ncit:C7057 . dgn-gda:DGNf171a84aefe3c3faae506d93b5022f22 sio:SIO_000628 miriam-gene:8106, lld:C0743319; a sio:SIO_001121 . } dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_provenance { dgn-np:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_assertion dcterms:description "[Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene.]. 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:15725589; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP790621.RAPEJpX_qY8q4sQUSQ0zFWsDV5G6mVBwUy7XXJKQOPN-Q130_publicationInfo { this: dcterms:created "2015-08-25T14:45:38+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }