@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo
> .
@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:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_head
{
this:
np:hasAssertion
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion
;
np:hasProvenance
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance
;
np:hasPublicationInfo
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion
a
np:Assertion
.
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance
a
np:Provenance
.
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion
{
miriam-gene:4360
a
ncit:C16612
.
lld:C0376545
a
ncit:C7057
.
dgn-gda:DGN85bcf0402528e9420c27cac189941883
sio:SIO_000628
miriam-gene:4360
,
lld:C0376545
;
a
sio:SIO_001121
.
}
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_provenance
{
dgn-np:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_assertion
dcterms:description
"[Heterozygous germ-line mutations in DNA mismatch repair (MMR) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous MMR gene mutations children are diagnosed at an early age with de novo neurofibromatosis type 1 (NF1) and/or hematological malignancies.]. 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:15139004
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP401396.RAINGNW4aeYWZUTGQxx_nNDdRs2IOqVVgRfWQABk0JkGo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:59+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" .
}