@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14
> .
@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:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_head
{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_assertion
a
np:Assertion
.
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a
np:Provenance
.
dgn-np:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:201163
a
ncit:C16612
.
lld:C0037277
a
ncit:C7057
.
dgn-gda:DGNcde231ef8a2d0adcbb6a10d2c64af685
sio:SIO_000628
miriam-gene:201163
,
lld:C0037277
;
a
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.
}
dgn-np:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_provenance
{
dgn-np:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_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-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:NP1053388.RANGbvD-Hh4CLpPA42SCEXZm96OaeOVgeW8Ysha5Kom14130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:44+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
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> , <
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
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"v4.0.0" .
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