@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE
> .
@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:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_head
{
this:
np:hasAssertion
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_assertion
;
np:hasProvenance
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_provenance
;
np:hasPublicationInfo
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_assertion
a
np:Assertion
.
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_provenance
a
np:Provenance
.
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_assertion
{
miriam-gene:4306
a
ncit:C16612
.
lld:C0268436
a
ncit:C7057
.
dgn-gda:DGNa12b156c88275053409cea172ea333e2
sio:SIO_000628
miriam-gene:4306
,
lld:C0268436
;
a
sio:SIO_001121
.
}
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_provenance
{
dgn-np:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_assertion
dcterms:description
"[The generalized, recessive form of the disease is due to abnormalities in the epithelial sodium channel, and inactivating mutations of the mineralocorticoid receptor are responsible for the autosomal dominant form of PHA1 and some sporadic cases.]. 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:15358279
;
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:NP432657.RAHpL7sJkE56LECLSvayT4QYNWUDhakrBk3WWR_SD0XRE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:16+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" .
}