@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc
> .
@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:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_head
{
this:
np:hasAssertion
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_assertion
;
np:hasProvenance
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_provenance
;
np:hasPublicationInfo
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_assertion
a
np:Assertion
.
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_provenance
a
np:Provenance
.
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_assertion
{
miriam-gene:2707
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN860eb276b7a955270e3763183c913a2e
sio:SIO_000628
miriam-gene:2707
,
lld:C0155552
;
a
sio:SIO_001121
.
}
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_provenance
{
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_assertion
dcterms:description
"[Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders.]. 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:10888284
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
}
dgn-np:NP288585.RAyuR0fsPs2qK6c2SSYEdU0-KpXF5qQFXsDBPjTnI-TUc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:56+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" .
}