@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw
> .
@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:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_head
{
this:
np:hasAssertion
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion
;
np:hasProvenance
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance
;
np:hasPublicationInfo
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion
a
np:Assertion
.
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance
a
np:Provenance
.
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion
{
miriam-gene:5309
a
ncit:C16612
.
lld:C0266449
a
ncit:C7057
.
dgn-gda:DGN996363c581f737597604693e8c3c7e36
sio:SIO_000628
miriam-gene:5309
,
lld:C0266449
;
a
sio:SIO_001121
.
}
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_provenance
{
dgn-np:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_assertion
dcterms:description
"[Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated.]. 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:17888164
;
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:NP195313.RABFOCLDW-kqJIwSXkoYbU9I6BgKGK5KLZcWioEZ6hbPw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:47+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" .
}