@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:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_head { this: np:hasAssertion dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_assertion; np:hasProvenance dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_provenance; np:hasPublicationInfo dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_publicationInfo; a np:Nanopublication . dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_assertion a np:Assertion . dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_provenance a np:Provenance . dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_publicationInfo a np:PublicationInfo . } dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_assertion { miriam-gene:2548 a ncit:C16612 . lld:C0524851 a ncit:C7057 . dgn-gda:DGN7d8a9e3b4cecc7372f592988b18631ed sio:SIO_000628 miriam-gene:2548, lld:C0524851; a sio:SIO_001121 . } dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_provenance { dgn-np:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_assertion dcterms:description "[Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.]. 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:20808827; 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:NP836282.RAqEif_BFn3i3qGwCrSyOHr9ZMHPYgUleKziOQ_pfDhqY130_publicationInfo { this: dcterms:created "2016-05-13T12:48:04+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" . }