@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I
> .
@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:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_head
{
this:
np:hasAssertion
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion
;
np:hasProvenance
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance
;
np:hasPublicationInfo
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion
a
np:Assertion
.
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance
a
np:Provenance
.
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion
{
miriam-gene:2703
a
ncit:C16612
.
lld:C0009691
a
ncit:C7057
.
dgn-gda:DGNeac4dad241a1b7885885a47c7b71b98c
sio:SIO_000628
miriam-gene:2703
,
lld:C0009691
;
a
sio:SIO_001121
.
}
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_provenance
{
dgn-np:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_assertion
dcterms:description
"[The result expands the mutation spectrum of GJA8 in associated with congenital cataract and microcornea, and implies that this gene has direct involvement with the development of the lens as well as the other anterior segment of the eye.]. 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:20806042
;
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:NP637028.RADJSy6RjOt5ObrTWHhond4M8kNjMK1dhl_XUPnxapK6I130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:24+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: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" .
}