@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA
> .
@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:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_head
{
this:
np:hasAssertion
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_assertion
;
np:hasProvenance
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_provenance
;
np:hasPublicationInfo
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_assertion
a
np:Assertion
.
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_provenance
a
np:Provenance
.
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0025149
a
ncit:C7057
.
dgn-gda:DGN054f2b39808cf46764f587e3d2fb1329
sio:SIO_000628
miriam-gene:6469
,
lld:C0025149
;
a
sio:SIO_001121
.
}
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_provenance
{
dgn-np:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_assertion
dcterms:description
"[We report here that a subset of children with medulloblastoma carry germline and somatic mutations in SUFU (encoding the human suppressor of fused) of the SHH pathway, accompanied by loss of heterozygosity of the wildtype allele.]. 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:12068298
;
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:NP358016.RArXgk-TnEaW7g0HhQX9fxTnU2gcEesc5IU2IpaeyDUqA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:27+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" .
}