@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo
> .
@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:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_head
{
this:
np:hasAssertion
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion
;
np:hasProvenance
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion
a
np:Assertion
.
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance
a
np:Provenance
.
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion
{
miriam-gene:5310
a
ncit:C16612
.
lld:C0085413
a
ncit:C7057
.
dgn-gda:DGN7b7a98e5f712236a31809a9764d4efda
sio:SIO_000628
miriam-gene:5310
,
lld:C0085413
;
a
sio:SIO_001121
.
}
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_provenance
{
dgn-np:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_assertion
dcterms:description
"[Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two large genes, PKD1 and PKD2, but genetic testing is complicated by the large transcript sizes and the duplication of PKD1 exons 1-33 as six pseudogenes on chromosome 16.]. 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:25010725
;
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:NP1200221.RAIXbwaDZzt2PZoAxsNmudyu30I_RyGO3vKtw5tAbnkIo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:50+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" .
}