@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:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_head { this: np:hasAssertion dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_assertion; np:hasProvenance dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_provenance; np:hasPublicationInfo dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_publicationInfo; a np:Nanopublication . dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_assertion a np:Assertion . dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_provenance a np:Provenance . dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_publicationInfo a np:PublicationInfo . } dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_assertion { miriam-gene:2108 a ncit:C16612 . lld:C0268596 a ncit:C7057 . dgn-gda:DGN97bbd9e67100276b1359f30f7ca9abfa sio:SIO_000628 miriam-gene:2108, lld:C0268596; a sio:SIO_001121 . } dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_provenance { dgn-np:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_assertion dcterms:description "[Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) or glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA (OMIM 608053), electron transfer flavoprotein beta-subunit, ETFB (OMIM 130410) and electron transfer flavoprotein dehydrogenase, ETFDH (OMIM 231675).]. 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:19265687; 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:NP724212.RA_wa5seI3QnFsvI7cDflFvi3a0aeeC6I0p4iVeP5Hpm8130_publicationInfo { this: dcterms:created "2016-05-13T12:47:13+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" . }