@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ
> .
@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:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_head
{
this:
np:hasAssertion
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_assertion
;
np:hasProvenance
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_assertion
a
np:Assertion
.
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_provenance
a
np:Provenance
.
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_assertion
{
miriam-gene:404672
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGNe49ab19007c7596caa480d69028498ac
sio:SIO_000628
miriam-gene:404672
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_provenance
{
dgn-np:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_assertion
dcterms:description
"[There are several hereditary diseases which are known to go along with genetic defects of DNA repair mechanisms comprising Xeroderma pigmentosum (XP), Cockayne syndrome (CS), Trichothiodystrophy (TTD), Werner syndrome (WS), Bloom syndrome (BS), Fanconi anemia (FA) and Ataxia telangiectasia (AT).]. 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:23522627
;
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:NP672249.RAYbkcTE2z7qk-Yf6FJP_5j2Xwz2PQ_K2d7ahUOGMXuaQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:46+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" .
}