@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM
> .
@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:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_head
{
this:
np:hasAssertion
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_assertion
;
np:hasProvenance
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_provenance
;
np:hasPublicationInfo
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_assertion
a
np:Assertion
.
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_provenance
a
np:Provenance
.
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_assertion
{
miriam-gene:7168
a
ncit:C16612
.
lld:C0007194
a
ncit:C7057
.
dgn-gda:DGN77f07e99054b0bdb26c8401d7213971a
sio:SIO_000628
miriam-gene:7168
,
lld:C0007194
;
a
sio:SIO_001122
.
}
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_provenance
{
dgn-np:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_assertion
dcterms:description
"[ Mutations in genes encoding thin filament proteins are less prevalent in HCM than previously estimated. Patients with mutations in troponin T, troponin I, alpha-tropomyosin, and actin do not invariably present with any distinct clinical feature, thus limiting the utility of gene status for risk stratification or of clinical phenotype in guiding individual genetic screening at this time.]. 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:12860912
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP58820.RAnT7-c3poLQvux1t6Lch1EiAfWrnnLm03TN_q0q0GeyM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:27+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" .
}