@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:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_head { this: np:hasAssertion dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_assertion; np:hasProvenance dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_provenance; np:hasPublicationInfo dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_publicationInfo; a np:Nanopublication . dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_assertion a np:Assertion . dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_provenance a np:Provenance . dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_publicationInfo a np:PublicationInfo . } dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_assertion { miriam-gene:8874 a ncit:C16612 . lld:C0339525 a ncit:C7057 . dgn-gda:DGN4aed227904c54891bb21a26bdc56d80b sio:SIO_000628 miriam-gene:8874, lld:C0339525; a sio:SIO_001121 . } dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_provenance { dgn-np:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_assertion dcterms:description "[The P23H mutation within the rhodopsin gene (RHO) causes rhodopsin misfolding, endoplasmic reticulum (ER) stress, and activates the unfolded protein response (UPR), leading to rod photoreceptor degeneration and autosomal dominant retinitis pigmentosa (ADRP).]. 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:20231467; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP291811.RAoAlpoi43aSAKlWcVGUtCm2LSNklMGHFgQZfJlTw_CV4130_publicationInfo { this: dcterms:created "2014-10-02T12:34:46+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }