@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA
> .
@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:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_head
{
this:
np:hasAssertion
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_assertion
;
np:hasProvenance
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_provenance
;
np:hasPublicationInfo
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_assertion
a
np:Assertion
.
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_provenance
a
np:Provenance
.
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_assertion
{
miriam-gene:583
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN9f37d550f8cc8a8b7cc6ec1220015256
sio:SIO_000628
miriam-gene:583
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_provenance
{
dgn-np:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_assertion
dcterms:description
"[Since all parents and two-thirds of siblings of BBS patients must be heterozygous for BBS mutations, our observations may implicate BBS genes in the pathogenesis of both renal cancer and malformations, both disorders of precursor cell growth and differentiation.]. 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:11096143
;
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:NP261302.RADB0DaWbEeo8bLT6y1NEK5bnbunNbxd1Mb8NReCr6HdA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:26+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" .
}