@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:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_head { this: np:hasAssertion dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion; np:hasProvenance dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance; np:hasPublicationInfo dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo; a np:Nanopublication . dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion a np:Assertion . dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance a np:Provenance . dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion { miriam-gene:6647 a ncit:C16612 . lld:C0751072 a ncit:C7057 . dgn-gda:DGN7d78b4b88639806b08c6c7a29a77148f sio:SIO_000628 miriam-gene:6647, lld:C0751072; a sio:SIO_001121 . } dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_provenance { dgn-np:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_assertion dcterms:description "[An abnormal expansion of a GGGGCC hexanucleotide repeat in a non-coding region of the chromosome 9 open reading frame 72 gene (C9ORF72) is the most common genetic abnormality in familial and sporadic FTLD and ALS and the cause in most families where both, FTLD and ALS, are inherited.]. 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:24356984; 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:NP1138525.RAqxP1e6ev2-Ft5uy2Idm1O85MLg4-MzMYxJu3Pm5k2WY130_publicationInfo { this: dcterms:created "2016-05-13T12:50:22+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" . }