@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40
> .
@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:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_head
{
this:
np:hasAssertion
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_assertion
;
np:hasProvenance
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_provenance
;
np:hasPublicationInfo
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_assertion
a
np:Assertion
.
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_provenance
a
np:Provenance
.
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C0334634
a
ncit:C7057
.
dgn-gda:DGNb28e17b796773ce464561d87bf650930
sio:SIO_000628
miriam-gene:2271
,
lld:C0334634
;
a
sio:SIO_001121
.
}
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_provenance
{
dgn-np:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_assertion
dcterms:description
"[Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL.]. 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:17613550
;
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:NP677464.RAE_r48w3w3W26yTvtTaExGtoGVO4zsLCjf2xNksG6Z40130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:49+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" .
}