@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ
> .
@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/v3.0.0/void/
> .
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_head
{
this:
np:hasAssertion
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_assertion
;
np:hasProvenance
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_assertion
a
np:Assertion
.
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_provenance
a
np:Provenance
.
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_assertion
{
miriam-gene:1178
a
ncit:C16612
.
lld:C0004775
a
ncit:C7057
.
dgn-gda:DGN3151cc09f0044badb3d8aeee38099ec5
sio:SIO_000628
miriam-gene:1178
,
lld:C0004775
;
a
sio:SIO_001121
.
}
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_provenance
{
dgn-np:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_assertion
dcterms:description
"[Human mutations in CLC channels are known to cause diseases as diverse as myotonia (muscle stiffness), Bartter syndrome (renal salt loss) with or without deafness, Dent's disease (proteinuria and kidney stones), osteopetrosis and neurodegeneration, and possibly epilepsy.]. 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:15709978
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP315141.RArM9NhMOf-36YmHqh3tPujw70Y_VY861qWV7MroNYSuQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:41+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}