@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU
> .
@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/v4.0.0/void/
> .
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_head
{
this:
np:hasAssertion
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_assertion
;
np:hasProvenance
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_provenance
;
np:hasPublicationInfo
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_assertion
a
np:Assertion
.
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_provenance
a
np:Provenance
.
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN48c2cfae3119351a09a27b5be0e2e91f
sio:SIO_000628
miriam-gene:5727
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_provenance
{
dgn-np:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_assertion
dcterms:description
"[This study aimed to analyse PTCH status in an NBCCS patient with fetal rhabdomyoma and to investigate whether deregulation of hedgehog signalling, as shown by altered expression of hedgehog pathway components and/or genetic imbalances, is a general finding in sporadic rhabdomyomas and rhabdomyosarcomas.]. 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:16294371
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP523133.RA1QH26zfIi97VNmC_dzMIjTaQGzV1o_4PujfD-02CYWU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:42+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}