@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o
> .
@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:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_head
{
this:
np:hasAssertion
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_assertion
;
np:hasProvenance
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_provenance
;
np:hasPublicationInfo
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_assertion
a
np:Assertion
.
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_provenance
a
np:Provenance
.
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_assertion
{
miriam-gene:846
a
ncit:C16612
.
lld:C0342345
a
ncit:C7057
.
dgn-gda:DGN63e7f16a309961fd74de488bbc4c5c0a
sio:SIO_000628
miriam-gene:846
,
lld:C0342345
;
a
sio:SIO_001121
.
}
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_provenance
{
dgn-np:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_assertion
dcterms:description
"[Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.]. 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:15056980
;
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:NP437963.RAkpWlnACahqkt5Jj6-rUc887lYSOi6pRYm9zyKlc1C-o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:03+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" .
}