@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o
> .
@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:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_head
{
this:
np:hasAssertion
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_assertion
;
np:hasProvenance
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_provenance
;
np:hasPublicationInfo
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_assertion
a
np:Assertion
.
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_provenance
a
np:Provenance
.
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_assertion
{
miriam-gene:7139
a
ncit:C16612
.
lld:C0002895
a
ncit:C7057
.
dgn-gda:DGN83b73dfd7f9a3778d04b22585e2c6cf5
sio:SIO_000628
miriam-gene:7139
,
lld:C0002895
;
a
sio:SIO_001121
.
}
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_provenance
{
dgn-np:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_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:NP193242.RAvfN_WSjmrIiWHIinpdupPl_Y8ZjQFU0U6tMKRqpsO8o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:46+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" .
}