@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk
> .
@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:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_head
{
this:
np:hasAssertion
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_assertion
;
np:hasProvenance
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_provenance
;
np:hasPublicationInfo
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_assertion
a
np:Assertion
.
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_provenance
a
np:Provenance
.
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_assertion
{
miriam-gene:8195
a
ncit:C16612
.
lld:C0752166
a
ncit:C7057
.
dgn-gda:DGN20472739717f926cff0057a76a1664a5
sio:SIO_000628
miriam-gene:8195
,
lld:C0752166
;
a
sio:SIO_001121
.
}
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_provenance
{
dgn-np:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_assertion
dcterms:description
"[Our data demonstrate that BBS6, BBS10, and BBS12 are necessary for BBSome assembly, and that impaired BBSome assembly contributes to the etiology of BBS phenotypes associated with the loss of function of these three BBS genes.]. 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:20080638
;
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:NP561612.RAXzwUo9oR4JU6yt4oD3UNp2fgtTxVYLNT_gUo61sf-mk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:38+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" .
}