@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag
> .
@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:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_head
{
this:
np:hasAssertion
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_assertion
;
np:hasProvenance
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_provenance
;
np:hasPublicationInfo
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_assertion
a
np:Assertion
.
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_provenance
a
np:Provenance
.
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_assertion
{
miriam-gene:6319
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGN7b7033c5a11054a3efbff5be1c01b4e7
sio:SIO_000628
miriam-gene:6319
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_provenance
{
dgn-np:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_assertion
dcterms:description
"[As HCM is a genetic disease whose initial manifestation can be sudden death, it is essential to establish the diagnosis at an early stage, to proceed with risk stratification and implementation of SCD prevention strategies, and to promote genetic counseling of patients and screening of their families.]. 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:18717215
;
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:NP566660.RARpORiNPe_a7c9Cb9vGo--RGGtfWElQoujecyFaI8Uag130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:41+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" .
}