@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA
> .
@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:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_head
{
this:
np:hasAssertion
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_assertion
;
np:hasProvenance
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_provenance
;
np:hasPublicationInfo
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_assertion
a
np:Assertion
.
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_provenance
a
np:Provenance
.
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_assertion
{
miriam-gene:26504
a
ncit:C16612
.
lld:C0002452
a
ncit:C7057
.
dgn-gda:DGN638c7b0c86963612cc83df6b1e1c4591
sio:SIO_000628
miriam-gene:26504
,
lld:C0002452
;
a
sio:SIO_001121
.
}
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_provenance
{
dgn-np:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_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:NP765426.RAuq5QNamRhziwbl0liE7Stz2KGBQPyRHzhuOCZViZKGA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:43+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" .
}