@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:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_head { this: np:hasAssertion dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_assertion; np:hasProvenance dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_provenance; np:hasPublicationInfo dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_publicationInfo; a np:Nanopublication . dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_assertion a np:Assertion . dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_provenance a np:Provenance . dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_publicationInfo a np:PublicationInfo . } dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_assertion { miriam-gene:3767 a ncit:C16612 . lld:C0011849 a ncit:C7057 . dgn-gda:DGNeb8648fad248b6fcd16d79c1875e0049 sio:SIO_000628 miriam-gene:3767, lld:C0011849; a sio:SIO_001122 . } dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_provenance { dgn-np:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_assertion dcterms:description "[ Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy. Identification of the genetic cause of permanent neonatal diabetes may fac]. 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:15115830; prov:wasDerivedFrom dgn-void:gad-20150221; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^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:NP81087.RAAqQH2Nay5Dc-qKUcVcLOcLb-AGLEW1_WfXeph_KDLN4130_publicationInfo { this: dcterms:created "2015-08-25T14:38:24+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }