@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew
> .
@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:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_head
{
this:
np:hasAssertion
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_assertion
;
np:hasProvenance
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_provenance
;
np:hasPublicationInfo
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_assertion
a
np:Assertion
.
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_provenance
a
np:Provenance
.
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_assertion
{
miriam-gene:5309
a
ncit:C16612
.
lld:C1862839
a
ncit:C7057
.
dgn-gda:DGN84c11cae6513bed220e3f39e232a869a
sio:SIO_000628
miriam-gene:5309
,
lld:C1862839
;
a
sio:SIO_001121
.
}
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_provenance
{
dgn-np:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_assertion
dcterms:description
"[Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological 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:22223473
;
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:NP837201.RAykjY62-IzxeS48OOh_qU7mBJ-WX9mv3Fvq6d0eN7Eew130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:32+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" .
}