@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:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_head { this: np:hasAssertion dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_assertion; np:hasProvenance dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_provenance; np:hasPublicationInfo dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_publicationInfo; a np:Nanopublication . dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_assertion a np:Assertion . dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_provenance a np:Provenance . dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_publicationInfo a np:PublicationInfo . } dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_assertion { miriam-gene:3842 a ncit:C16612 . lld:C0009691 a ncit:C7057 . dgn-gda:DGNb38a0f0da0132e86cda9ba18ef7bc959 sio:SIO_000628 miriam-gene:3842, lld:C0009691; a sio:SIO_001121 . } dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_provenance { dgn-np:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_assertion dcterms:description "[Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.]. 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:21181374; 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:NP861253.RAGpqGtpJvLJwiq7f1O8zY8VxpheGB2B5bon2gJLsGsY8130_publicationInfo { this: dcterms:created "2016-05-13T12:48:15+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" . }