@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
> .
@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:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_head
{
this:
np:hasAssertion
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
;
np:hasProvenance
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
;
np:hasPublicationInfo
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
a
np:Assertion
.
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
a
np:Provenance
.
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
{
miriam-gene:2697
a
ncit:C16612
.
lld:C0017601
a
ncit:C7057
.
dgn-gda:DGNd63114d13051f5daec5b3c208a015605
sio:SIO_000628
miriam-gene:2697
,
lld:C0017601
;
a
sio:SIO_001121
.
}
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
{
dgn-np:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
dcterms:description
"[In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. 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:16638984
;
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:NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:57+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" .
}