@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM
> .
@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:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_head
{
this:
np:hasAssertion
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_assertion
;
np:hasProvenance
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_provenance
;
np:hasPublicationInfo
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_assertion
a
np:Assertion
.
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_provenance
a
np:Provenance
.
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_assertion
{
miriam-gene:127534
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGNa807aac1510abc70b23937f33dc1d6d2
sio:SIO_000628
miriam-gene:127534
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_provenance
{
dgn-np:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_assertion
dcterms:description
"[There is now a considerable overlap with other gap junction disorders and we propose that some cases of erythrokeratodermia variabilis without mutations in either GJB3 or GJB4 but with deafness may be caused by mutations in GJB2.]. 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:16280295
;
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:NP430842.RAG8OEY-xYLXHcr9iGNm02cc5cDu4j4CkPoO1kJpTUZYM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:15+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" .
}