@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_head
{
this:
np:hasAssertion
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_assertion
;
np:hasProvenance
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_provenance
;
np:hasPublicationInfo
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_assertion
a
np:Assertion
.
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_provenance
a
np:Provenance
.
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_assertion
{
miriam-gene:3920
a
ncit:C16612
.
lld:C0878544
a
ncit:C7057
.
dgn-gda:DGN2f91cba8a23080db9434b22bf9b15123
sio:SIO_000628
miriam-gene:3920
,
lld:C0878544
;
a
sio:SIO_001121
.
}
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_provenance
{
dgn-np:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_assertion
dcterms:description
"[Danon disease is a rare X-linked lysosomal disease causing severe hypertrophic cardiomyopathy (LAMP2 cardiomyopathy) and an extremely poor prognosis in males, with several reported cases of sudden cardiac death despite the use of transvenous implantable cardioverter defibrillators (TV-ICD).]. 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:23577876
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP531411.RAhzHV_8anOMpghv7HBrMyl-N35MHuJFo_cjLVDUGYrf4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:54+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}