@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:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_head { this: np:hasAssertion dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_assertion; np:hasProvenance dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_provenance; np:hasPublicationInfo dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_publicationInfo; a np:Nanopublication . dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_assertion a np:Assertion . dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_provenance a np:Provenance . dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_publicationInfo a np:PublicationInfo . } dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_assertion { miriam-gene:3630 a ncit:C16612 . lld:C0011849 a ncit:C7057 . dgn-gda:DGNc5ce10c3053ed6d3d46695bbaebd0ab6 sio:SIO_000628 miriam-gene:3630, lld:C0011849; a sio:SIO_001121 . } dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_provenance { dgn-np:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_assertion dcterms:description "[It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described.]. 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:16416420; 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:NP531256.RAx5XgB4mu5iNc_hYVH1N08-DH8QzFc-kCLc1DvQuWPMA130_publicationInfo { this: dcterms:created "2016-05-13T12:45:45+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" . }