@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:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_head { this: np:hasAssertion dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_assertion; np:hasProvenance dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_provenance; np:hasPublicationInfo dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_publicationInfo; a np:Nanopublication . dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_assertion a np:Assertion . dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_provenance a np:Provenance . dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_publicationInfo a np:PublicationInfo . } dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_assertion { miriam-gene:4867 a ncit:C16612 . lld:C1691228 a ncit:C7057 . dgn-gda:DGN90867c39a115efcce69118ed4716a317 sio:SIO_000628 miriam-gene:4867, lld:C1691228; a sio:SIO_001121 . } dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_provenance { dgn-np:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_assertion dcterms:description "[Positional cloning of six novel genes (NPHP1 through 6) as mutated in NPHP and functional characterization of their encoded proteins have contributed to the concept of ciliopathies. It has helped advance a new unifying theory of cystic kidney diseases.]. 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:17513324; 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:NP610857.RAhRcrom0NbPoBXgTGU_e9oqYXnaM_6h_vFjJQfj_ycg0130_publicationInfo { this: dcterms:created "2016-05-13T12:46:22+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" . }