@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP441020.RAmF7vRa9mhlsMJmQZEyHr3quymd2VFnVYHHriDLcm85Y
> .
@prefix sub: <
http://rdf.disgenet.org/resource/nanopub/NP441020.RAmF7vRa9mhlsMJmQZEyHr3quymd2VFnVYHHriDLcm85Y#
> .
@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 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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v5.0.0/void/
> .
sub:head
{
this:
np:hasAssertion
sub:assertion
;
np:hasProvenance
sub:provenance
;
np:hasPublicationInfo
sub:publicationInfo
;
a
np:Nanopublication
.
}
sub:assertion
{
dgn-gda:DGN9b1d70c2ba688f8601f892f94a9110e0
sio:SIO_000628
miriam-gene:2697
,
lld:C0014493
;
a
sio:SIO_001121
.
}
sub:provenance
{
sub:assertion
dcterms:description
"[We demonstrate that DSP mutations in our EKC syndrome subjects affect localization of desmosomal proteins and connexin 43 in the skin, and result in desmosome aggregation, widening of intercellular spaces, and lipid secretory defects.]. 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:26604139
;
prov:wasDerivedFrom
dgn-void:BEFREE
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:BEFREE
pav:importedOn
"2017-02-19"^^
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 .
}
sub:publicationInfo
{
this:
dcterms:created
"2017-10-17T13:12:59+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
"v5.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v5.0.0" .
}