@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM
> .
@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:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_head
{
this:
np:hasAssertion
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_assertion
;
np:hasProvenance
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_provenance
;
np:hasPublicationInfo
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_assertion
a
np:Assertion
.
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_provenance
a
np:Provenance
.
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_assertion
{
miriam-gene:7139
a
ncit:C16612
.
lld:C0271287
a
ncit:C7057
.
dgn-gda:DGN7f0ad101a63e18abb01f8da33b18de64
sio:SIO_000628
miriam-gene:7139
,
lld:C0271287
;
a
sio:SIO_001121
.
}
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_provenance
{
dgn-np:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_assertion
dcterms:description
"[Currently it is not possible to predict the phenotype in carriers of mutations in these genes, although it is widely accepted that mutations in the MYH7 gene predispose to severe HC, whereas TNNT2 mutations are frequently linked to sudden cardiac death (SCD) in spite of minimal hypertrophy.]. 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:12881443
;
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:NP564575.RAKvJSvgGHLrNIhoHd58zpwAr6MpXFy1tPqVPFJ0a5wRM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:40+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" .
}