@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_head
{
this:
np:hasAssertion
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_assertion
;
np:hasProvenance
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_provenance
;
np:hasPublicationInfo
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_assertion
a
np:Assertion
.
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_provenance
a
np:Provenance
.
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_assertion
{
miriam-gene:3767
a
ncit:C16612
.
lld:C0011847
a
ncit:C7057
.
dgn-gda:DGNb1aa8573e532e7e512a6fa21ca0f1e82
sio:SIO_000628
miriam-gene:3767
,
lld:C0011847
;
a
sio:SIO_001121
.
}
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_provenance
{
dgn-np:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_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:NP691233.RAMoGYB69P5YYoAf6feEa5SFd0RDq4l-LG1j-WaWPbdds130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:58+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}