@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ
> .
@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 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:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_head
{
this:
np:hasAssertion
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion
;
np:hasProvenance
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion
a
np:Assertion
.
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance
a
np:Provenance
.
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion
{
miriam-gene:284086
a
ncit:C16612
.
lld:C3151188
a
ncit:C7057
.
dgn-gda:DGN744ea946d33d817358261da5b67fc0c3
sio:SIO_000628
miriam-gene:284086
,
lld:C3151188
;
a
sio:SIO_001122
.
}
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_provenance
{
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_assertion
dct: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_curated
;
sio:SIO_000772
miriam-pubmed:18199800
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP5245.RAF8mIrAjhq0ZywtMU1RZos6BAHJX0mQfhw6_KR3ENLhQ130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:52+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}