@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE
> .
@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:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_head
{
this:
np:hasAssertion
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_assertion
;
np:hasProvenance
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_provenance
;
np:hasPublicationInfo
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_assertion
a
np:Assertion
.
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_provenance
a
np:Provenance
.
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_assertion
{
miriam-gene:10627
a
ncit:C16612
.
lld:C0745103
a
ncit:C7057
.
dgn-gda:DGNfac5e6403f3019f73cfc161e3efdc358
sio:SIO_000628
miriam-gene:10627
,
lld:C0745103
;
a
sio:SIO_001121
.
}
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_provenance
{
dgn-np:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_assertion
dcterms:description
"[Clinical studies have revealed that mutations in the ventricular myosin regulatory light chain (RLC) lead to the development of familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disease characterized by left ventricular hypertrophy, myofibrillar disarray and sudden cardiac death.]. 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:16837010
;
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:NP480672.RAmkfbKzjDgqLJLLhjhWvRBOXhrZODrRYMNvPtbEBIEuE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:47+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" .
}