@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0
> .
@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 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:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_head
{
this:
np:hasAssertion
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_assertion
;
np:hasProvenance
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_provenance
;
np:hasPublicationInfo
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_assertion
a
np:Assertion
.
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_provenance
a
np:Provenance
.
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_assertion
{
miriam-gene:27032
a
ncit:C16612
.
lld:C0085106
a
ncit:C7057
.
dgn-gda:DGN6926c816f0765bfc338e83b9a8251565
sio:SIO_000628
miriam-gene:27032
,
lld:C0085106
;
a
sio:SIO_001122
.
}
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_provenance
{
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_assertion
dc:description
"[This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10767338
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:58+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}