@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc
> .
@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:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_head
{
this:
np:hasAssertion
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_assertion
;
np:hasProvenance
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_provenance
;
np:hasPublicationInfo
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_assertion
a
np:Assertion
.
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_provenance
a
np:Provenance
.
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_assertion
{
miriam-gene:51360
a
ncit:C16612
.
lld:C1275091
a
ncit:C7057
.
dgn-gda:DGN422401e4ad0f586cc785f1be37f9edc8
sio:SIO_000628
miriam-gene:51360
,
lld:C1275091
;
a
sio:SIO_001121
.
}
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_provenance
{
dgn-np:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_assertion
dcterms:description
"[Missense mutations of the gene, MBTPS2, which codes for an intramembrane zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, are associated with the IFAP phenotype in this kindred.]. 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:19689518
;
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:NP576103.RAxrzoQ2LMMZYSoiPg5F44d6Q07ZrkBXyLS5A7SkAeTtc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:47+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" .
}