@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:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_head { this: np:hasAssertion dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_assertion; np:hasProvenance dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_provenance; np:hasPublicationInfo dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_publicationInfo; a np:Nanopublication . dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_assertion a np:Assertion . dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_provenance a np:Provenance . dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_publicationInfo a np:PublicationInfo . } dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_assertion { miriam-gene:3630 a ncit:C16612 . lld:C0020459 a ncit:C7057 . dgn-gda:DGN750c97e6b1f0c0ac8fabb6af26331265 sio:SIO_000628 miriam-gene:3630, lld:C0020459; a sio:SIO_001121 . } dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_provenance { dgn-np:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_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 hyperinsulinism of infancy, while activating mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.]. 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:18767144; 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:NP691236.RAstTPXfL_iSK6Ga6zbOu0Bkxv6GMHenYlXkFkVuwBrQ8130_publicationInfo { this: dcterms:created "2016-05-13T12:46:58+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" . }