@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc
> .
@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/v3.0.0/void/
> .
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_head
{
this:
np:hasAssertion
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_assertion
;
np:hasProvenance
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_provenance
;
np:hasPublicationInfo
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_assertion
a
np:Assertion
.
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_provenance
a
np:Provenance
.
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_assertion
{
miriam-gene:5077
a
ncit:C16612
.
lld:C0019569
a
ncit:C7057
.
dgn-gda:DGN127e8ffb6b9eace557d654da75208627
sio:SIO_000628
miriam-gene:5077
,
lld:C0019569
;
a
sio:SIO_001121
.
}
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_provenance
{
dgn-np:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_assertion
dcterms:description
"[Taken together with the opposing effects of Pax3 and Tcof1 on NCC differentiation, the synergistic haploinsufficiency of Tcof1 and Pax3 results in colonic aganglionosis in mice and may contribute to the pathogenesis of Hirschsprung disease.]. 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:23283078
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP609397.RAE-1VF1vGWybJPuevlqLVRuwUXrCpgBkXaxXV5gT6sOc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:44+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}