@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs
> .
@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:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_head
{
this:
np:hasAssertion
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_assertion
;
np:hasProvenance
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_provenance
;
np:hasPublicationInfo
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_assertion
a
np:Assertion
.
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_provenance
a
np:Provenance
.
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_assertion
{
miriam-gene:1832
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGN9888aa0b40bc0c1b385dba8c27d8a9ad
sio:SIO_000628
miriam-gene:1832
,
lld:C0022596
;
a
sio:SIO_001121
.
}
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_provenance
{
dgn-np:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_assertion
dcterms:description
"[The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical components of the desmosome.]. 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:18957847
;
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:NP349114.RAscw7nDzN2pnQijjcsSbSmVNc-iKY0Tg6u3BpYlCimMs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:25+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" .
}