@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao
> .
@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:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_head
{
this:
np:hasAssertion
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_assertion
;
np:hasProvenance
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_provenance
;
np:hasPublicationInfo
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_assertion
a
np:Assertion
.
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_provenance
a
np:Provenance
.
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_assertion
{
miriam-gene:5080
a
ncit:C16612
.
lld:C0003076
a
ncit:C7057
.
dgn-gda:DGN6813dc2b1f821fa918cd11ff0b3e7fb3
sio:SIO_000628
miriam-gene:5080
,
lld:C0003076
;
a
sio:SIO_001121
.
}
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_provenance
{
dgn-np:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_assertion
dcterms:description
"[ERG abnormalities have been documented in other mutations of the PAX6 gene, and we propose that the retinal pathology causing these ERG abnormalities may contribute to the photophobia experienced by patients with aniridia.]. 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:25555363
;
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:NP1252571.RAMrXFIARhzMH5LL8ki59J2vKFSB-Doha1do6JORiImao130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:14+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" .
}