@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg
> .
@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:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_head
{
this:
np:hasAssertion
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_assertion
;
np:hasProvenance
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_assertion
a
np:Assertion
.
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_provenance
a
np:Provenance
.
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_assertion
{
miriam-gene:675
a
ncit:C16612
.
lld:C0677776
a
ncit:C7057
.
dgn-gda:DGN148a8b819628f8d5cd4b2bf791eebbb6
sio:SIO_000628
miriam-gene:675
,
lld:C0677776
;
a
sio:SIO_001121
.
}
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_provenance
{
dgn-np:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_assertion
dcterms:description
"[In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes.]. 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:22846738
;
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:NP1001512.RAc_tf992LCtnIoV5GT6itNagR9aZ_FYJ5KOoap45gNkg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:19+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" .
}