@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_head
{
this:
np:hasAssertion
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_assertion
;
np:hasProvenance
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_provenance
;
np:hasPublicationInfo
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_assertion
a
np:Assertion
.
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_provenance
a
np:Provenance
.
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_assertion
{
miriam-gene:3767
a
ncit:C16612
.
lld:C0020459
a
ncit:C7057
.
dgn-gda:DGNbf6b7a4c67513fb0888f4b7d6c77593b
sio:SIO_000628
miriam-gene:3767
,
lld:C0020459
;
a
sio:SIO_001121
.
}
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_provenance
{
dgn-np:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_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-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:NP878458.RA8BQIPLKx4IyJ4CMeNTWUI45tPHioOS3AcUa04RUhVwU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:57+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}