@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU
> .
@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:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_head
{
this:
np:hasAssertion
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion
;
np:hasProvenance
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion
a
np:Assertion
.
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance
a
np:Provenance
.
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion
{
miriam-gene:5076
a
ncit:C16612
.
lld:C1852759
a
ncit:C7057
.
dgn-gda:DGN15d93b5353f5e155933f82dd790dc129
sio:SIO_000628
miriam-gene:5076
,
lld:C1852759
;
a
sio:SIO_001121
.
}
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_provenance
{
dgn-np:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_assertion
dcterms:description
"[We conclude that PAX2 mutations are unlikely to be common in patients with ocular colobomas in isolation or in patients with ocular colobomas and associated anomalies, except for patients with typical renal-coloboma syndrome where PAX2 is known to be the aetiological cause.]. 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:9783702
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1406362.RAAsCqsJt_AlsLNPoI5icZDNUKQ7Q0wGF75dFKeym3YnU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:24+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
<
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}