@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU
> .
@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:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_head
{
this:
np:hasAssertion
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion
;
np:hasProvenance
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance
;
np:hasPublicationInfo
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion
a
np:Assertion
.
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance
a
np:Provenance
.
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion
{
miriam-gene:27443
a
ncit:C16612
.
lld:C0265493
a
ncit:C7057
.
dgn-gda:DGN431eb3e557ce44c744fed7580b8344b2
sio:SIO_000628
miriam-gene:27443
,
lld:C0265493
;
a
sio:SIO_001121
.
}
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_provenance
{
dgn-np:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_assertion
dcterms:description
"[This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.]. 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:22395867
;
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:NP757437.RAyrz46ckU4sq4Yk9OH-QYZlBmpMO_un74lQ3sNfswCZU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:38+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" .
}