@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA
> .
@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:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_head
{
this:
np:hasAssertion
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_assertion
;
np:hasProvenance
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_provenance
;
np:hasPublicationInfo
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_assertion
a
np:Assertion
.
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_provenance
a
np:Provenance
.
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_assertion
{
miriam-gene:6392
a
ncit:C16612
.
lld:C0027651
a
ncit:C7057
.
dgn-gda:DGN0bdf069d2a62922638d0eda39a9d956d
sio:SIO_000628
miriam-gene:6392
,
lld:C0027651
;
a
sio:SIO_001121
.
}
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_provenance
{
dgn-np:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_assertion
dcterms:description
"[Heterozygous germline mutations in SDHA, SDHB, SDHC, SDHD and in the assembly factor encoding gene SDHAF2 have all been shown to predispose to heritable endocrine neoplasias such as pheochromocytomas (PHEO) and paragangliomas (PGLs) called 'PHEO-PGL syndrome'.]. 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:23175444
;
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:NP569660.RAoB_A_BX-koXO0VR46LRt_r8xId7ri4_4Zzk0BwyNmzA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:43+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" .
}