@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY
> .
@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:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_head
{
this:
np:hasAssertion
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_assertion
;
np:hasProvenance
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_assertion
a
np:Assertion
.
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_provenance
a
np:Provenance
.
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_assertion
{
miriam-gene:11200
a
ncit:C16612
.
lld:C0678222
a
ncit:C7057
.
dgn-gda:DGN051ff664e42895385cb98c9e2d73b649
sio:SIO_000628
miriam-gene:11200
,
lld:C0678222
;
a
sio:SIO_001121
.
}
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_provenance
{
dgn-np:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_assertion
dcterms:description
"[Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2.]. 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:25467110
;
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:NP1244129.RAaY9th40aaKBZnNg2vV091G75k9w6kEvtNB0cCcsxVPY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:10+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" .
}