@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
> .
@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 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:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_head
{
this:
np:hasAssertion
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
;
np:hasProvenance
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
;
np:hasPublicationInfo
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
a
np:Assertion
.
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
a
np:Provenance
.
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
{
miriam-gene:5080
a
ncit:C16612
.
lld:C0344559
a
ncit:C7057
.
dgn-gda:DGN33c01ebc91b159d4f9f20fb24e571140
sio:SIO_000628
miriam-gene:5080
,
lld:C0344559
;
a
sio:SIO_001122
.
}
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
{
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
dcterms:description
"[The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10441571
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}