@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A
> .
@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:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_head
{
this:
np:hasAssertion
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_assertion
;
np:hasProvenance
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_provenance
;
np:hasPublicationInfo
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_assertion
a
np:Assertion
.
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_provenance
a
np:Provenance
.
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_assertion
{
miriam-gene:1184
a
ncit:C16612
.
lld:C0035078
a
ncit:C7057
.
dgn-gda:DGN69e4c78abd32566ce56f13287eb49a5e
sio:SIO_000628
miriam-gene:1184
,
lld:C0035078
;
a
sio:SIO_001121
.
}
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_provenance
{
dgn-np:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_assertion
dcterms:description
"[X-linked nephrolithiasis, or Dent's disease, encompasses several clinical syndromes of low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure, and is associated with mutations in the CLCN5 gene encoding a kidney-specific voltage-gated chloride channel.]. 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:9734595
;
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:NP1403783.RAolRTAXoSs1tll3jNo_LsE_eLh411UH7RCNPkU2a3q6A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:22+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" .
}