@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM
> .
@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:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_head
{
this:
np:hasAssertion
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_assertion
;
np:hasProvenance
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_provenance
;
np:hasPublicationInfo
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_assertion
a
np:Assertion
.
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_provenance
a
np:Provenance
.
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_assertion
{
miriam-gene:641
a
ncit:C16612
.
lld:C0043119
a
ncit:C7057
.
dgn-gda:DGN31473602f79eee2bf8423f6999419ed9
sio:SIO_000628
miriam-gene:641
,
lld:C0043119
;
a
sio:SIO_001121
.
}
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_provenance
{
dgn-np:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_assertion
dcterms:description
"[In human cells, there exist five RecQ DNA helicases, and mutations of three of these helicases, encoded by the BLM, WRN and RECQL4 genes, give rise to the cancer predisposition disorders, Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS), respectively.]. 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:18719387
;
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:NP689028.RAYtX_1OrB07IrVPsaoM8wZZSXuKTE9laNguOAHwT8XEM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:57+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" .
}