@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new
> .
@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:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_head
{
this:
np:hasAssertion
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_assertion
;
np:hasProvenance
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_provenance
;
np:hasPublicationInfo
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_assertion
a
np:Assertion
.
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_provenance
a
np:Provenance
.
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0027831
a
ncit:C7057
.
dgn-gda:DGNe7decaf14e3f7bf2fff1fd189db576d8
sio:SIO_000628
miriam-gene:5979
,
lld:C0027831
;
a
sio:SIO_001121
.
}
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_provenance
{
dgn-np:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_assertion
dcterms:description
"[Forty-one (6.7%) of the 609 patients had phaeochromocytomas, of which 28 were sporadic (25 benign and three malignant) and 13 (all benign) were associated with hereditary diseases (multiple endocrine neoplasia type 2A in seven cases from four unrelated families carrying mutations of the RET gene, von Hippel-Lindau disease in two unrelated cases with mutations of the VHL gene, and type 1 neurofibromatosis in four unrelated cases).]. 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:15452453
;
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:NP262672.RArgi0Ou-bJf99JFs9tgL7qZZd-d6Ro7fXKIO_aNW2new130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:26+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" .
}