@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc
> .
@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/v3.0.0/void/
> .
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_head
{
this:
np:hasAssertion
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_assertion
;
np:hasProvenance
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_provenance
;
np:hasPublicationInfo
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_assertion
a
np:Assertion
.
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_provenance
a
np:Provenance
.
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_assertion
{
miriam-gene:5309
a
ncit:C16612
.
lld:C0026010
a
ncit:C7057
.
dgn-gda:DGNcebbb36ff85c7e0d871e04d80fd5eced
sio:SIO_000628
miriam-gene:5309
,
lld:C0026010
;
a
sio:SIO_001121
.
}
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_provenance
{
dgn-np:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP626566.RAbLTs0qy-0EFTqsJmZpwTQfQazHSdTi8jAlDl9uKrPNc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:55+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}