@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI
> .
@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 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:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_head
{
this:
np:hasAssertion
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_assertion
;
np:hasProvenance
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_provenance
;
np:hasPublicationInfo
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_assertion
a
np:Assertion
.
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_provenance
a
np:Provenance
.
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_assertion
{
miriam-gene:5310
a
ncit:C16612
.
lld:C3149841
a
ncit:C7057
.
dgn-gda:DGN3de3aa1e9aff379e9cd8a4569b820434
sio:SIO_000628
miriam-gene:5310
,
lld:C3149841
;
a
sio:SIO_001122
.
}
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_provenance
{
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_assertion
dc:description
"[The sequence similarity between the PKD1 and HG regions has precluded specific analysis of the duplicated region of PKD1, and consequently all previously described mutations map to the unique 3' region of PKD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9199561
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4970.RAQfgOVnIoxXfo9eHMb06ZZIWHN0HYT1hacm5X7E2k1dI130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:00+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}