@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg
> .
@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:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_head
{
this:
np:hasAssertion
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_assertion
;
np:hasProvenance
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_provenance
;
np:hasPublicationInfo
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_assertion
a
np:Assertion
.
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_provenance
a
np:Provenance
.
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_assertion
{
miriam-gene:4653
a
ncit:C16612
.
lld:C0020302
a
ncit:C7057
.
dgn-gda:DGN5f6226026952a6dc28b8950ea7c1bc56
sio:SIO_000628
miriam-gene:4653
,
lld:C0020302
;
a
sio:SIO_001121
.
}
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_provenance
{
dgn-np:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_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:NP824825.RAa6PZhV3Xs4Wukql40_yN5PIVKchUdTNB6ogzTugsFdg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:25+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" .
}