@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:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_head { this: np:hasAssertion dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_assertion; np:hasProvenance dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_provenance; np:hasPublicationInfo dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_publicationInfo; a np:Nanopublication . dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_assertion a np:Assertion . dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_provenance a np:Provenance . dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_publicationInfo a np:PublicationInfo . } dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_assertion { miriam-gene:7827 a ncit:C16612 . lld:C0403399 a ncit:C7057 . dgn-gda:DGN846a42990d24f57437095bb99ea1df79 sio:SIO_000628 miriam-gene:7827, lld:C0403399; a sio:SIO_001121 . } dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_provenance { dgn-np:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_assertion dcterms:description "[Mutations of the novel renal glomerular genes NPHS1 and NPHS2 encoding nephrin and podocin cause two types of severe nephrotic syndrome presenting in early life, Finnish type congenital nephrotic syndrome (CNF) and a form of autosomal recessive familial focal segmental glomerulosclerosis (SRN1), respectively.]. 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:11854170; 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:NP340121.RAamZiWebedU943-vLgi4rLr1Ov5njUNkV18Ai6HemJ9M130_publicationInfo { this: dcterms:created "2014-10-02T12:35:20+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" . }