@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E
> .
@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:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_head
{
this:
np:hasAssertion
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion
;
np:hasProvenance
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance
;
np:hasPublicationInfo
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion
a
np:Assertion
.
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance
a
np:Provenance
.
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion
{
miriam-gene:201163
a
ncit:C16612
.
lld:C0007134
a
ncit:C7057
.
dgn-gda:DGN5b3d8b2719429679fc5edf25137fff60
sio:SIO_000628
miriam-gene:201163
,
lld:C0007134
;
a
sio:SIO_001121
.
}
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_provenance
{
dgn-np:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_assertion
dcterms:description
"[Germline mutation of the folliculin gene (BHD) at chromosome 17p11.2 is associated with the development of multiplex hamartomas of the hair follicles, chromophobe renal cell carcinomas (RCC) and renal oncocytomas (RO).]. 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:14961590
;
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:NP431668.RAX6nQ3fOFq1I8VU2XNtMQ1n5dwu7AcDfxj8YcFXm4e1E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:01+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" .
}