@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg
> .
@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:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_head
{
this:
np:hasAssertion
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_assertion
;
np:hasProvenance
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_provenance
;
np:hasPublicationInfo
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_assertion
a
np:Assertion
.
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_provenance
a
np:Provenance
.
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGN0eb5e2646d207c4daa6cd1c5a1c8d810
sio:SIO_000628
miriam-gene:2706
,
lld:C0022596
;
a
sio:SIO_001121
.
}
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_provenance
{
dgn-np:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_assertion
dcterms:description
"[The involvement of GJB2 in autosomal dominant deafness has also been proposed, although the putative mutation identified in one family with both deafness and palmoplantar keratoderma has recently been suggested to be merely a non-disease associated polymorphism.]. 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:9856479
;
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:NP631111.RA9z5wUmeESuNdn60kZkqS83WqCKv9gYaQXxaLNjsiPBg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:20+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" .
}