@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs
> .
@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:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_head
{
this:
np:hasAssertion
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_assertion
;
np:hasProvenance
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_provenance
;
np:hasPublicationInfo
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_assertion
a
np:Assertion
.
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_provenance
a
np:Provenance
.
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_assertion
{
miriam-gene:2316
a
ncit:C16612
.
lld:C1848213
a
ncit:C7057
.
dgn-gda:DGN84e5630bf4330c62bbf7ab4bdc9ca742
sio:SIO_000628
miriam-gene:2316
,
lld:C1848213
;
a
sio:SIO_001121
.
}
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_provenance
{
dgn-np:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_assertion
dcterms:description
"[The X-linked dominant form of BPNH, related to mutations in FLNA encoding filamin A, is the major cause of BPNH, causing prenatal and neonatal lethality in males that explain the excess of affected women.]. 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:22366253
;
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:NP817582.RA2AIDViYwR7DlXyelyz3tVUrh98nhDmzVt_ThDQBvZIs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:21+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" .
}