@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M
> .
@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:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_head
{
this:
np:hasAssertion
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_assertion
;
np:hasProvenance
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_provenance
;
np:hasPublicationInfo
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_assertion
a
np:Assertion
.
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_provenance
a
np:Provenance
.
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_assertion
{
miriam-gene:6833
a
ncit:C16612
.
lld:C1833104
a
ncit:C7057
.
dgn-gda:DGN21c438fb5e922b7b309b8d945d9a4292
sio:SIO_000628
miriam-gene:6833
,
lld:C1833104
;
a
sio:SIO_001121
.
}
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_provenance
{
dgn-np:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_assertion
dcterms:description
"[Most cases of permanent form of neonatal diabetes mellitus (PNDM) are due to dominant heterozygous gain of function (activating) mutations in either KCNJ11 or ABCC8 genes, that code for Kir 6.2 and SUR1 subunits, respectively of the pancreatic b cell KATP channel.]. 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:22796691
;
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:NP499504.RAp0WiCkTZ58D30P3NogdVeHD2x9e3R4UjGqaE5HMfB9M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:58+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: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" .
}