@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU
> .
@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:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_head
{
this:
np:hasAssertion
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_assertion
;
np:hasProvenance
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_provenance
;
np:hasPublicationInfo
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_assertion
a
np:Assertion
.
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_provenance
a
np:Provenance
.
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_assertion
{
miriam-gene:5308
a
ncit:C16612
.
lld:C0020608
a
ncit:C7057
.
dgn-gda:DGN60ba661724bccc908042e165b658653a
sio:SIO_000628
miriam-gene:5308
,
lld:C0020608
;
a
sio:SIO_001121
.
}
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_provenance
{
dgn-np:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_assertion
dcterms:description
"[Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis.]. 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:14630904
;
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:NP909429.RAOYpm3PVDnfcypL3xhhSv1sPEAm3U9RKX3zk9K2AIXoU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:18+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" .
}