@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA
> .
@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/v3.0.0/void/
> .
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_head
{
this:
np:hasAssertion
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_assertion
;
np:hasProvenance
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_provenance
;
np:hasPublicationInfo
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_assertion
a
np:Assertion
.
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_provenance
a
np:Provenance
.
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_assertion
{
miriam-gene:8419
a
ncit:C16612
.
lld:C3808115
a
ncit:C7057
.
dgn-gda:DGN0cb415cc85d724594b76926785554ef3
sio:SIO_000628
miriam-gene:8419
,
lld:C3808115
;
a
sio:SIO_001122
.
}
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_provenance
{
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_assertion
dc:description
"[A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.]. 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:10729115
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
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-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP3504.RAi9w5krPdfO9Mt_p9xG-iQveRA7GYHU3-GO4Biy7SApA130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:43+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}