@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ
> .
@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:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_head
{
this:
np:hasAssertion
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion
;
np:hasProvenance
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion
a
np:Assertion
.
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance
a
np:Provenance
.
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion
{
miriam-gene:4935
a
ncit:C16612
.
lld:C0078917
a
ncit:C7057
.
dgn-gda:DGNe8ccbfcce0b621ce57644fff354736b2
sio:SIO_000628
miriam-gene:4935
,
lld:C0078917
;
a
sio:SIO_001121
.
}
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_provenance
{
dgn-np:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_assertion
dcterms:description
"[We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated 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:21264491
;
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:NP354710.RAABL7HAlYkyU9DGRykYx3_pUdH3I1d1vezcHVTnllvnQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:28+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" .
}