@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk
> .
@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:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_head
{
this:
np:hasAssertion
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion
;
np:hasProvenance
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion
a
np:Assertion
.
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance
a
np:Provenance
.
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion
{
miriam-gene:9839
a
ncit:C16612
.
lld:C1856113
a
ncit:C7057
.
dgn-gda:DGN109af419519495015ecd7d609d88c856
sio:SIO_000628
miriam-gene:9839
,
lld:C1856113
;
a
sio:SIO_001121
.
}
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_provenance
{
dgn-np:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_assertion
dcterms:description
"[Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities and other congenital malformations.]. 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:23322667
;
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:NP1044325.RAJs94gdIt1IwvCSIU7B3iIcoW_PX9jRkCGL9PrtsoRjk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:39+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" .
}