@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I
> .
@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:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_head
{
this:
np:hasAssertion
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_assertion
;
np:hasProvenance
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_provenance
;
np:hasPublicationInfo
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_assertion
a
np:Assertion
.
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_provenance
a
np:Provenance
.
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_assertion
{
miriam-gene:6559
a
ncit:C16612
.
lld:C0085758
a
ncit:C7057
.
dgn-gda:DGN51fb389e154ba20f79626ec8c182223d
sio:SIO_000628
miriam-gene:6559
,
lld:C0085758
;
a
sio:SIO_001121
.
}
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_provenance
{
dgn-np:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_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-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:NP420681.RAogbOO88wgouU1aHRl87C9_FI0fRNkCbNPnHfJLdEb_I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:09+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" .
}