@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA
> .
@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:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_head
{
this:
np:hasAssertion
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_assertion
;
np:hasProvenance
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_provenance
;
np:hasPublicationInfo
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_assertion
a
np:Assertion
.
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_provenance
a
np:Provenance
.
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C1511789
a
ncit:C7057
.
dgn-gda:DGNa7e698709afc7213cb01a84476a462d2
sio:SIO_000628
miriam-gene:5727
,
lld:C1511789
;
a
sio:SIO_001121
.
}
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_provenance
{
dgn-np:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_assertion
dcterms:description
"[Activation of the sonic hedgehog pathway with frequent mutations of the PTCH and SUFU genes, loss of 9q, and positivity for GLI1 and SFRP1 is more frequent in children less than 3 years old and in adults, commonly associated with desmoplastic histology.]. 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:22027544
;
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:NP808438.RAp9d9B1qHH0tD8JhRVQZbNfIRCHr6Br5IM_jUQzRaWQA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:15+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" .
}