@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E
> .
@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:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_head
{
this:
np:hasAssertion
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_assertion
;
np:hasProvenance
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_provenance
;
np:hasPublicationInfo
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_assertion
a
np:Assertion
.
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_provenance
a
np:Provenance
.
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_assertion
{
miriam-gene:585
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
dgn-gda:DGN383da95baddc2d9528c72eb29283f0a6
sio:SIO_000628
miriam-gene:585
,
lld:C0752166
;
a
sio:SIO_001121
.
}
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_provenance
{
dgn-np:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_assertion
dcterms:description
"[Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7).]. 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:15266619
;
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:NP259786.RATc46M1dWxHvjQpk4NXbVFq-Z4w8bI--6J5Wjwt7-60E130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:07+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: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" .
}