@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:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_head { this: np:hasAssertion dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_assertion; np:hasProvenance dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_provenance; np:hasPublicationInfo dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_publicationInfo; a np:Nanopublication . dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_assertion a np:Assertion . dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_provenance a np:Provenance . dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_publicationInfo a np:PublicationInfo . } dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_assertion { miriam-gene:3000 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGN4224983153ff319980e63d7d239fb8e7 sio:SIO_000628 miriam-gene:3000, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_provenance { dgn-np:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_assertion dcterms:description "[The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs).]. 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:17270046; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP442492.RAjwplP_huHR699KA0n_TKP3p2CIxd-zVOfZTZNM2mj5c130_publicationInfo { this: dcterms:created "2015-08-25T14:41:58+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }