@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8
> .
@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:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_head
{
this:
np:hasAssertion
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_assertion
;
np:hasProvenance
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_provenance
;
np:hasPublicationInfo
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_assertion
a
np:Assertion
.
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_provenance
a
np:Provenance
.
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_assertion
{
miriam-gene:2260
a
ncit:C16612
.
lld:C0432122
a
ncit:C7057
.
dgn-gda:DGN7de3c31a9e7baf8daf81df09353a3af2
sio:SIO_000628
miriam-gene:2260
,
lld:C0432122
;
a
sio:SIO_001121
.
}
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_provenance
{
dgn-np:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_assertion
dcterms:description
"[Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes.]. 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:16526918
;
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:NP801829.RAEPXMAEIWoJ1Pkx7XSD8ggjxxeC7Vh2pEBVEngthyLQ8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:12+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" .
}