@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4
> .
@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:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_head
{
this:
np:hasAssertion
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_assertion
;
np:hasProvenance
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_provenance
;
np:hasPublicationInfo
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_assertion
a
np:Assertion
.
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_provenance
a
np:Provenance
.
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_assertion
{
miriam-gene:5429
a
ncit:C16612
.
lld:C0007114
a
ncit:C7057
.
dgn-gda:DGN7c415b0d2e4077778704c4a42e98c87e
sio:SIO_000628
miriam-gene:5429
,
lld:C0007114
;
a
sio:SIO_001121
.
}
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_provenance
{
dgn-np:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_assertion
dcterms:description
"[The autosomal recessive disorder Xeroderma pigmentosum-variant (XPV) is characterized (i) at the cellular level by dramatic hypermutability and defective recovery of DNA synthesis following UV exposure, and (ii) clinically by abnormal sunlight sensitivity and remarkable predisposition to skin cancer.]. 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:20457011
;
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:NP471071.RAeAImSKdg5glMM4P-oN6KaJZ260bU2unQSvKh3evXhA4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:42+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" .
}