@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ
> .
@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:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_head
{
this:
np:hasAssertion
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion
;
np:hasProvenance
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion
a
np:Assertion
.
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance
a
np:Provenance
.
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion
{
miriam-gene:585
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
dgn-gda:DGNb8fe228bf3ab82105214a7154a580723
sio:SIO_000628
miriam-gene:585
,
lld:C0752166
;
a
sio:SIO_001121
.
}
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_provenance
{
dgn-np:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_assertion
dcterms:description
"[This finding broadens the spectrum of clinical manifestations associated with BBS, confirms the role of BBS4 in olfaction, and lends support to the hypothesis that ciliary dysfunction is an important aspect of BBS pathogenesis.]. 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:15654695
;
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:NP541302.RAH2upPSJ_W7BPMaiPLKhsncJkx-Py54tIduEEqSHkBeQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:26+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" .
}