@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY
> .
@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:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_head
{
this:
np:hasAssertion
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_assertion
;
np:hasProvenance
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_provenance
;
np:hasPublicationInfo
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_assertion
a
np:Assertion
.
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_provenance
a
np:Provenance
.
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_assertion
{
miriam-gene:5624
a
ncit:C16612
.
lld:C0265325
a
ncit:C7057
.
dgn-gda:DGNdb795c74575e2966cd07c4f6453bb075
sio:SIO_000628
miriam-gene:5624
,
lld:C0265325
;
a
sio:SIO_001121
.
}
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_provenance
{
dgn-np:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_assertion
dcterms:description
"[The former appears to be mostly due to mutations in the APC gene, and the latter to mutations in mismatch repair (MMR) genes, so it would be better named as hereditary mismatch repair deficiency (HMRDS).]. 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:15648180
;
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:NP523358.RAA7omQyGsgicQ14u1b5Fyf08rfvl5f6qXpnt_-kq1aMY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:11+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" .
}