@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE
> .
@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:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_head
{
this:
np:hasAssertion
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion
;
np:hasProvenance
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance
;
np:hasPublicationInfo
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion
a
np:Assertion
.
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance
a
np:Provenance
.
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion
{
miriam-gene:4653
a
ncit:C16612
.
lld:C2981140
a
ncit:C7057
.
dgn-gda:DGN3e30bac21020e00155192cec4f4b220c
sio:SIO_000628
miriam-gene:4653
,
lld:C2981140
;
a
sio:SIO_001121
.
}
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_provenance
{
dgn-np:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_assertion
dcterms:description
"[The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.]. 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:21596299
;
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:NP413959.RABpSSCzuoEfJ1wU2AHErXF5g24mgnBVxIym1HoeXFfqE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:06+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" .
}