@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc
> .
@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/v3.0.0/void/
> .
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_head
{
this:
np:hasAssertion
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion
;
np:hasProvenance
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance
;
np:hasPublicationInfo
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion
a
np:Assertion
.
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance
a
np:Provenance
.
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion
{
miriam-gene:57728
a
ncit:C16612
.
lld:C0403553
a
ncit:C7057
.
dgn-gda:DGNfbd4a20147ced321cf3218b9511b0d96
sio:SIO_000628
miriam-gene:57728
,
lld:C0403553
;
a
sio:SIO_001121
.
}
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance
{
dgn-np:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion
dcterms:description
"[Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. 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:24504730
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:10+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}