@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI
> .
@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:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_head
{
this:
np:hasAssertion
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_assertion
;
np:hasProvenance
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_provenance
;
np:hasPublicationInfo
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_assertion
a
np:Assertion
.
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_provenance
a
np:Provenance
.
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C0027651
a
ncit:C7057
.
dgn-gda:DGN7bac202150e8f1e4b9be009679e62382
sio:SIO_000628
miriam-gene:2271
,
lld:C0027651
;
a
sio:SIO_001121
.
}
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_provenance
{
dgn-np:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_assertion
dcterms:description
"[Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyomatosis and renal cell cancer; yet the connection between disruption of mitochondrial metabolic pathways and neoplasia remains to be discovered.]. 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:16319128
;
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:NP216159.RA__VtSNazgz5xMQ042KwwVnQ2C3gI9o_ghvLKIde9IrI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:00+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" .
}