@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A
> .
@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:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_head
{
this:
np:hasAssertion
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion
;
np:hasProvenance
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance
;
np:hasPublicationInfo
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion
a
np:Assertion
.
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance
a
np:Provenance
.
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion
{
miriam-gene:201163
a
ncit:C16612
.
lld:C0037286
a
ncit:C7057
.
dgn-gda:DGN0380d3dd94cd6197cbc33447f5d83fd0
sio:SIO_000628
miriam-gene:201163
,
lld:C0037286
;
a
sio:SIO_001121
.
}
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_provenance
{
dgn-np:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_assertion
dcterms:description
"[Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant genodermatosis characterized by the presence of three skin tumors (fibrofolliculomas, trichodiscomas, and acrochordons), together with an increased risk for other tumors, especially renal tumors, caused by a mutation in folliculin, an oncogene suppressor protein.]. 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:23414156
;
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:NP918064.RARTmyLBfIRi91R2nCYJw85Pj-9VOul_nYoBDJienWB_A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:23+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" .
}