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http://rdf.disgenet.org/nanopublications.trig#NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
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dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_assertion
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dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_assertion
a
np:Assertion
.
dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_provenance
a
np:Provenance
.
dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_publicationInfo
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.
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dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_assertion
{
miriam-gene:5309
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN96df99b536d4da6c9e168c9c214ddf0b
sio:SIO_000628
miriam-gene:5309
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_provenance
{
dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_assertion
dcterms:description
"[The results show that in some individuals within one family, duplication of this segment of PITX3 can result in severe symptoms leading to functional blindness while in other individuals in the same family or in other families, the same duplication leads to treatable cataract with minimal visual impairment.]. 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:18989383
;
prov:wasDerivedFrom
dgn-void:befree-20140225
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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 .
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dgn-np:NP728404.RA56N2coq1x2iUz0_-cFFWeJ0kWCVq56Kam1zsms8MGy8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:22+02:00"^^
xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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> , <
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> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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