@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_head
{
this:
np:hasAssertion
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_assertion
;
np:hasProvenance
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_provenance
;
np:hasPublicationInfo
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_assertion
a
np:Assertion
.
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_provenance
a
np:Provenance
.
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_assertion
{
miriam-gene:4952
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGN7c4525e14a04a53f81fa33f27541b535
sio:SIO_000628
miriam-gene:4952
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_provenance
{
dgn-np:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_assertion
dcterms:description
"[These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities that are characteristic of Lowe syndrome.]. 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:15627218
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP474692.RASj1lGpKn-iKlqR96HAK8aX-n5o4pmzIDsQAXojxa55s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:20+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}