@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU
> .
@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:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_head
{
this:
np:hasAssertion
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_assertion
;
np:hasProvenance
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_provenance
;
np:hasPublicationInfo
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_assertion
a
np:Assertion
.
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_provenance
a
np:Provenance
.
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_assertion
{
miriam-gene:284086
a
ncit:C16612
.
lld:C1691228
a
ncit:C7057
.
dgn-gda:DGNfc716ee1188142af17c1f7a0b273085a
sio:SIO_000628
miriam-gene:284086
,
lld:C1691228
;
a
sio:SIO_001121
.
}
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_provenance
{
dgn-np:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_assertion
dcterms:description
"[Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.]. 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:18199800
;
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:NP793650.RAnEsjv0lNtgMJ0lVYFYXOpSW3e8tzpAUrwAYanm6RYXU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:07+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" .
}