@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI
> .
@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:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_head
{
this:
np:hasAssertion
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_assertion
;
np:hasProvenance
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_provenance
;
np:hasPublicationInfo
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_assertion
a
np:Assertion
.
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_provenance
a
np:Provenance
.
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGN031f27a300985ecc2bfe91b228a911c9
sio:SIO_000628
miriam-gene:2706
,
lld:C0022596
;
a
sio:SIO_001122
.
}
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_provenance
{
dgn-np:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_assertion
dcterms:description
"[Focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases.]. 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:18787097
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP241903.RA1DB00t-Nd4cqYxfoxUGpMlluVbOAXHtSOHsksmF6TkI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:36+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" .
}