@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8
> .
@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:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_head
{
this:
np:hasAssertion
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion
;
np:hasProvenance
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion
a
np:Assertion
.
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance
a
np:Provenance
.
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion
{
miriam-gene:2254
a
ncit:C16612
.
lld:C0007758
a
ncit:C7057
.
dgn-gda:DGNa12c4f811c85fc280c8e3f017fb7a73a
sio:SIO_000628
miriam-gene:2254
,
lld:C0007758
;
a
sio:SIO_001121
.
}
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_provenance
{
dgn-np:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_assertion
dcterms:description
"[The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome.]. 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:24807585
;
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:NP1180464.RA5Rz-2zIcJsUYQ107N3MZAqvkdEzEH22sfYrz8Yentw8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:41+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" .
}