@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c
> .
@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:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_head
{
this:
np:hasAssertion
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_assertion
;
np:hasProvenance
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_provenance
;
np:hasPublicationInfo
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_assertion
a
np:Assertion
.
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_provenance
a
np:Provenance
.
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_assertion
{
miriam-gene:100130086
a
ncit:C16612
.
lld:C0019069
a
ncit:C7057
.
dgn-gda:DGN8aa797a86e97f7ec4008e7b4bba68524
sio:SIO_000628
miriam-gene:100130086
,
lld:C0019069
;
a
sio:SIO_001121
.
}
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_provenance
{
dgn-np:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_assertion
dcterms:description
"[The copy number of several genes is affected by this rearrangement, with deletion of part of the Factor VIII gene (F8, causing hemophilia A) and the FUNDC2 gene, and duplication of the TMEM185A, HSFX1, MAGEA9, and MAGEA11 genes.]. 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:17683067
;
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:NP731953.RAE4fKOQRgoQ_itVwU091R82akOK0SueoohmPD4af3O0c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:24+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" .
}