@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0
> .
@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:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_head
{
this:
np:hasAssertion
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_assertion
;
np:hasProvenance
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_provenance
;
np:hasPublicationInfo
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_assertion
a
np:Assertion
.
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_provenance
a
np:Provenance
.
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_assertion
{
miriam-gene:11200
a
ncit:C16612
.
lld:C1458155
a
ncit:C7057
.
dgn-gda:DGN30b7e3edf38c6beec19709a74bacebbf
sio:SIO_000628
miriam-gene:11200
,
lld:C1458155
;
a
sio:SIO_001121
.
}
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_provenance
{
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_assertion
dcterms:description
"[Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the variant in other situations is uncertain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15122511
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP11745.RAqa-ZUgHDhBR9FQ7RHt-U31zt7n2DiRoENftzT7r_9b0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:03+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" .
}