@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90
> .
@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:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_head
{
this:
np:hasAssertion
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_assertion
;
np:hasProvenance
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_provenance
;
np:hasPublicationInfo
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_assertion
a
np:Assertion
.
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_provenance
a
np:Provenance
.
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_assertion
{
miriam-gene:3198
a
ncit:C16612
.
lld:C0013261
a
ncit:C7057
.
dgn-gda:DGN9560572fed52127133e9791ca94cf1f5
sio:SIO_000628
miriam-gene:3198
,
lld:C0013261
;
a
sio:SIO_001121
.
}
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_provenance
{
dgn-np:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_assertion
dcterms:description
"[The findings in this patient raise the possibility that PTPRN2 may be active during early development of the human brainstem and that its overexpression may cause bilateral DRS with hearing loss as occurs in patients with homozygous HOXA1 mutations.]. 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:22950449
;
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:NP326700.RA94ZgLnlZIK56-3iVy3gNZxuWjtigwrNm9PZ-OFSdy90130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:11+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" .
}