@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A
> .
@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/v4.0.0/void/
> .
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_head
{
this:
np:hasAssertion
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_assertion
;
np:hasProvenance
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_provenance
;
np:hasPublicationInfo
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_assertion
a
np:Assertion
.
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_provenance
a
np:Provenance
.
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_assertion
{
miriam-gene:583
a
ncit:C16612
.
lld:C0740457
a
ncit:C7057
.
dgn-gda:DGN6cb12b5abb2642e15cc039335cbcad1f
sio:SIO_000628
miriam-gene:583
,
lld:C0740457
;
a
sio:SIO_001121
.
}
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_provenance
{
dgn-np:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP301579.RAeryz6mrUngyDZRadcJeuZgrBsEPKzoTRcKEIAGdbw8A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:02+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}