@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I
> .
@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/v3.0.0/void/
> .
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_head
{
this:
np:hasAssertion
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_assertion
;
np:hasProvenance
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_provenance
;
np:hasPublicationInfo
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_assertion
a
np:Assertion
.
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_provenance
a
np:Provenance
.
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_assertion
{
miriam-gene:3767
a
ncit:C16612
.
lld:C0011847
a
ncit:C7057
.
dgn-gda:DGNc205150953f5bedbcb77aab82c97a650
sio:SIO_000628
miriam-gene:3767
,
lld:C0011847
;
a
sio:SIO_001122
.
}
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_provenance
{
dgn-np:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_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:NP81086.RAWZEPFGVZh2joudeDDKiEEFFlW3AVD9DcIIw_YI0bB6I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:24+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}