@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio
> .
@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:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_head
{
this:
np:hasAssertion
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_assertion
;
np:hasProvenance
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_provenance
;
np:hasPublicationInfo
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_assertion
a
np:Assertion
.
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_provenance
a
np:Provenance
.
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_assertion
{
miriam-gene:9451
a
ncit:C16612
.
lld:C1833104
a
ncit:C7057
.
dgn-gda:DGNaff72c4757b3cc921c0a573d98744faa
sio:SIO_000628
miriam-gene:9451
,
lld:C1833104
;
a
sio:SIO_001121
.
}
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_provenance
{
dgn-np:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_assertion
dcterms:description
"[Wolcott-Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations.]. 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:24194294
;
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:NP1125241.RAKEcMaQusKDQ_pAb2TpFmO04wdHAQS5s_BtLU22KVQio130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:16+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" .
}