@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:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_head { this: np:hasAssertion dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_assertion; np:hasProvenance dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_provenance; np:hasPublicationInfo dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_publicationInfo; a np:Nanopublication . dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_assertion a np:Assertion . dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_provenance a np:Provenance . dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_publicationInfo a np:PublicationInfo . } dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_assertion { miriam-gene:4169 a ncit:C16612 . lld:C0022658 a ncit:C7057 . dgn-gda:DGN3d64e63e836f70efa36fc85c5f96a18b sio:SIO_000628 miriam-gene:4169, lld:C0022658; a sio:SIO_001121 . } dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_provenance { dgn-np:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_assertion dcterms:description "[Autosomal dominant medullary cystic kidney disease (ADMCKD; synonym: medullary cystic disease, MCD) is an autosomal dominant kidney disorder, sharing morphological and clinical features with recessive juvenile nephronophthisis (NPH), such as reduced urinary concentration ability and multiple renal cysts at the corticomedullary junction.]. 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:9719147; 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:NP686715.RAm3tyhrYVJ7RO9JVJx92M428ht9N1ASXJOM02aSPwReI130_publicationInfo { this: dcterms:created "2014-10-02T12:38:57+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" . }