@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M
> .
@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:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_head
{
this:
np:hasAssertion
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_assertion
;
np:hasProvenance
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_provenance
;
np:hasPublicationInfo
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_assertion
a
np:Assertion
.
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_provenance
a
np:Provenance
.
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_assertion
{
miriam-gene:7157
a
ncit:C16612
.
lld:C0027672
a
ncit:C7057
.
dgn-gda:DGNedc6740c53f0f286707b181b8e569ca1
sio:SIO_000628
miriam-gene:7157
,
lld:C0027672
;
a
sio:SIO_001121
.
}
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_provenance
{
dgn-np:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_assertion
dcterms:description
"[Almost all identified high-penetrance gene mutations in those families fulfill the typical phenotypes of hereditary cancer syndromes listed in the National Comprehensive Cancer Network (NCCN) guidelines, except two TP53 and three mismatch repair gene mutations.]. 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:25927356
;
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:NP1281549.RAvhhcxDSvqv9pKWAa_JiOGb9BiKWyjgJaXNdAzQnob-M130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:27+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" .
}