@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_assertion
;
np:hasProvenance
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_provenance
;
np:hasPublicationInfo
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_assertion
a
np:Assertion
.
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_provenance
a
np:Provenance
.
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_assertion
{
miriam-gene:26504
a
ncit:C16612
.
lld:C3495589
a
ncit:C7057
.
dgn-gda:DGN46cf38abd42fcc14071e1919b0db9acd
sio:SIO_000628
miriam-gene:26504
,
lld:C3495589
;
a
sio:SIO_001121
.
}
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_provenance
{
dgn-np:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_assertion
dcterms:description
"[The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization.]. 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:19200525
;
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:NP692486.RANq4rZ646MVPoHfwcGIXyXsTKCPNhhYp2s6GU05JPA4k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:00+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" .
}