@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4
> .
@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:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_head
{
this:
np:hasAssertion
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_assertion
;
np:hasProvenance
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_provenance
;
np:hasPublicationInfo
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_assertion
a
np:Assertion
.
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_provenance
a
np:Provenance
.
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_assertion
{
miriam-gene:632
a
ncit:C16612
.
lld:C0175699
a
ncit:C7057
.
dgn-gda:DGNd353c689ca1dccf66b6b1486305f3929
sio:SIO_000628
miriam-gene:632
,
lld:C0175699
;
a
sio:SIO_001121
.
}
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_provenance
{
dgn-np:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_assertion
dcterms:description
"[Cranial osteoblasts from an SCS patient with a Y103X mutation inducing deletion of the Twist bHLH domain showed decreased Fgfr2 mRNA levels associated with decreased expression of Runx2, bone sialoprotein (BSP) and osteocalcin (OC), markers of differentiated osteoblasts, compared with wild-type osteoblasts.]. 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:15829502
;
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:NP380143.RAJ7AowSAMzY3I8mbOKy1dJL89moAn9GIknlHnLRkcYh4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:45+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" .
}