@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU
> .
@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:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_head
{
this:
np:hasAssertion
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion
;
np:hasProvenance
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance
;
np:hasPublicationInfo
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion
a
np:Assertion
.
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance
a
np:Provenance
.
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion
{
miriam-gene:57688
a
ncit:C16612
.
lld:C0206762
a
ncit:C7057
.
dgn-gda:DGNd2c05e224806716ede6707ac81d97d10
sio:SIO_000628
miriam-gene:57688
,
lld:C0206762
;
a
sio:SIO_001121
.
}
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_provenance
{
dgn-np:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_assertion
dcterms:description
"[qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.]. 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:25105228
;
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:NP932876.RAVelALiOcrIUyRbIPvazcVhuLPVwnwGh2A0J6UJybUfU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:09+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: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" .
}