@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ
> .
@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:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_head
{
this:
np:hasAssertion
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_assertion
;
np:hasProvenance
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_assertion
a
np:Assertion
.
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_provenance
a
np:Provenance
.
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_assertion
{
miriam-gene:1545
a
ncit:C16612
.
lld:C0020302
a
ncit:C7057
.
dgn-gda:DGNbf2b68e4566e72bc9f769ecfd1ef881b
sio:SIO_000628
miriam-gene:1545
,
lld:C0020302
;
a
sio:SIO_001122
.
}
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_provenance
{
dgn-np:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_assertion
dcterms:description
"[The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity. The rarity of mutations in the CYP1B1 gene among Ashkenazi primary congenital glaucoma patients ]. 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:21168818
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP189030.RA1Uky6w9gsUKDUH3NzUNb49rVdVIOscAJIBsZLnvA0HQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:12+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}