@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:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_head { this: np:hasAssertion dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_assertion; np:hasProvenance dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_provenance; np:hasPublicationInfo dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_publicationInfo; a np:Nanopublication . dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_assertion a np:Assertion . dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_provenance a np:Provenance . dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_publicationInfo a np:PublicationInfo . } dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_assertion { miriam-gene:3842 a ncit:C16612 . lld:C0086543 a ncit:C7057 . dgn-gda:DGNb8eefeb2f71f2ff0618f0901f5cd4939 sio:SIO_000628 miriam-gene:3842, lld:C0086543; a sio:SIO_001121 . } dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_provenance { dgn-np:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_assertion dcterms:description "[To further elucidate the cataract phenotype, and identify the gene and mutation for autosomal dominant cataract (ADC) in an American family of European descent (ADC2) by sequencing the major intrinsic protein gene (MIP), a candidate based on linkage to chromosome 12q13.]. 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:16564824; 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:NP694799.RAIQqlSHovyf4X2Csf3pX_B0A8rTCZIvwTgiMVcGj_IsA130_publicationInfo { this: dcterms:created "2014-10-02T12:39:02+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" . }