@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk
> .
@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:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_assertion
;
np:hasProvenance
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_provenance
;
np:hasPublicationInfo
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_assertion
a
np:Assertion
.
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_provenance
a
np:Provenance
.
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_assertion
{
miriam-gene:26504
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGNa618108037b2f4e9118b7af8b8e053a0
sio:SIO_000628
miriam-gene:26504
,
lld:C0035334
;
a
sio:SIO_001121
.
}
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_provenance
{
dgn-np:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_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:NP621144.RAVKagusS5B7ey59GDv_vb2RW8jSvjOzvxxDwirife8Xk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:15+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" .
}