@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w
> .
@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/v4.0.0/void/
> .
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_head
{
this:
np:hasAssertion
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_assertion
;
np:hasProvenance
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_provenance
;
np:hasPublicationInfo
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_assertion
a
np:Assertion
.
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_provenance
a
np:Provenance
.
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_assertion
{
miriam-gene:6520
a
ncit:C16612
.
lld:C0949658
a
ncit:C7057
.
dgn-gda:DGNa96dacf81f1c4fc9bca0fff9d6ce3058
sio:SIO_000628
miriam-gene:6520
,
lld:C0949658
;
a
sio:SIO_001121
.
}
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_provenance
{
dgn-np:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_assertion
dcterms:description
"[Several mutations within the gene coding for the cardiac beta myosin heavy chain (designed MYH7) have been shown to be responsible for Familial Hypertrophic Cardiomyopathy (FHC) in several families, and evidence of genetic heterogeneity has been reported.]. 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:7815466
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1322768.RA3IJ2oRZtnSUhw15eof6bvhDlO9eex6nfEUooP9hrF_w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:46+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: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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}