@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg
> .
@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:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_head
{
this:
np:hasAssertion
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_assertion
;
np:hasProvenance
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_provenance
;
np:hasPublicationInfo
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_assertion
a
np:Assertion
.
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_provenance
a
np:Provenance
.
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_assertion
{
miriam-gene:5594
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGNeadfaf392439caba8c91adb8235eafd1
sio:SIO_000628
miriam-gene:5594
,
lld:C0012236
;
a
sio:SIO_001121
.
}
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_provenance
{
dgn-np:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_assertion
dcterms:description
"[Three genes in chromosome 22q11.2 (TBX1, CRKL, and ERK2) have been identified whose haploinsufficiency causes dysfunction of the neural crest cell and anterior heart field and anomalies of 22q11.2 deletion syndrome.]. 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:20494672
;
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:NP814023.RAPlUG2rT0fs0aUhIdIxiDfrZgLL-nt2zkRDBpf3KTOBg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:54+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" .
}