@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw
> .
@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:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_head
{
this:
np:hasAssertion
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_assertion
;
np:hasProvenance
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_provenance
;
np:hasPublicationInfo
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_assertion
a
np:Assertion
.
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_provenance
a
np:Provenance
.
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_assertion
{
miriam-gene:6833
a
ncit:C16612
.
lld:C0027773
a
ncit:C7057
.
dgn-gda:DGNd9480f815354ede30eaa0810ebfaf400
sio:SIO_000628
miriam-gene:6833
,
lld:C0027773
;
a
sio:SIO_001121
.
}
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_provenance
{
dgn-np:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_assertion
dcterms:description
"[Paternal mutation of ATP-sensitive K(+) (K(ATP)) channel genes and loss of heterozygosity (LOH) of the 11p15 region including the maternal alleles of ABCC8, IGF2, and CDKN1C characterize the focal form of persistent hyperinsulinemic hypoglycemia of infancy (FoPHHI).]. 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:12606521
;
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:NP306668.RAJEPvJFllfQsABlX1GMt1EH8ppDwb97Vte-VJqoON2Lw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:56+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" .
}