@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:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_head { this: np:hasAssertion dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion; np:hasProvenance dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance; np:hasPublicationInfo dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo; a np:Nanopublication . dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion a np:Assertion . dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance a np:Provenance . dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo a np:PublicationInfo . } dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion { miriam-gene:145226 a ncit:C16612 . lld:C0035304 a ncit:C7057 . dgn-gda:DGN0cfb8fbc39bf60fd020a3ab7698b4c72 sio:SIO_000628 miriam-gene:145226, lld:C0035304; a sio:SIO_001121 . } dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_provenance { dgn-np:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_assertion dcterms:description "[Several mutations have been described in the RDH12 gene that disturb the activity of the encoded protein, suggesting that RDH12 loss of function disrupts the synthetic pathway of the visual chromophore 11-cis-retinal, therefore resulting in early and progressive retinal degeneration (RD).]. 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:19011012; 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:NP703646.RA9H_z4hkZaCBiX-o6Ngq-L5o0MEH1TDmhjMfQA6t0EWo130_publicationInfo { this: dcterms:created "2016-05-13T12:47:04+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" . }