@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E
> .
@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:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_head
{
this:
np:hasAssertion
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_assertion
;
np:hasProvenance
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_provenance
;
np:hasPublicationInfo
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_assertion
a
np:Assertion
.
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_provenance
a
np:Provenance
.
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_assertion
{
miriam-gene:5310
a
ncit:C16612
.
lld:C2316810
a
ncit:C7057
.
dgn-gda:DGNd2ce5eed40c777ea3b98bd93687ed10f
sio:SIO_000628
miriam-gene:5310
,
lld:C2316810
;
a
sio:SIO_001121
.
}
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_provenance
{
dgn-np:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_assertion
dcterms:description
"[A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation.]. 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:23496908
;
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:NP481257.RAPGuz4Mo4t1wC1fE8qcOt2X81TCL57SdDHS-Ow0pFY0E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:48+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" .
}